Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.740787T>A , CM000671.2:g.740787T>A	GRCh38
NC_000009.11:g.740787T>A , CM000671.1:g.740787T>A	GRCh37
NC_000009.10:g.730787T>A	NCBI36
NG_016331.2:g.275494T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382286.3:c.623-5T>A	ENSP00000371723.4:n.623-5T>A
ENST00000382289.7:c.893-5T>A	ENSP00000371726.3:n.893-5T>A
ENST00000619269.5:c.3623-5T>A	ENSP00000477725.2:n.3623-5T>A
ENST00000685049.1:n.1100-5T>A
ENST00000685380.1:c.2882-5T>A	ENSP00000508606.1:n.2882-5T>A
ENST00000685590.1:c.2786-5T>A	ENSP00000510487.1:n.2786-5T>A
ENST00000685947.1:c.3554-5T>A	ENSP00000508833.1:n.3554-5T>A
ENST00000687662.1:c.3026-5T>A	ENSP00000509160.1:n.3026-5T>A
ENST00000687796.1:c.3080-5T>A	ENSP00000510058.1:n.3080-5T>A
ENST00000688039.1:c.*649-5T>A	ENSP00000510133.1:n.*649-5T>A
ENST00000688321.1:n.946-5T>A
ENST00000689214.1:c.*1076-5T>A	ENSP00000508779.1:n.*1076-5T>A
ENST00000689779.1:c.3554-5T>A	ENSP00000508451.1:n.3554-5T>A
ENST00000689926.1:c.3314-5T>A	ENSP00000510088.1:n.3314-5T>A
ENST00000690348.1:c.3149-5T>A	ENSP00000509448.1:n.3149-5T>A
ENST00000690372.1:c.3080-5T>A	ENSP00000509433.1:n.3080-5T>A
ENST00000691319.1:c.3314-5T>A	ENSP00000509034.1:n.3314-5T>A
ENST00000691645.1:c.*298-5T>A	ENSP00000508795.1:n.*298-5T>A
ENST00000692130.1:n.4801-5T>A
ENST00000692345.1:c.3080-5T>A	ENSP00000508925.1:n.3080-5T>A
ENST00000692757.1:c.2840-5T>A	ENSP00000510316.1:n.2840-5T>A
ENST00000693021.1:c.2786-5T>A	ENSP00000509347.1:n.2786-5T>A
ENST00000693088.1:c.3080-5T>A	ENSP00000510671.1:n.3080-5T>A
ENST00000693143.1:c.2840-5T>A	ENSP00000510515.1:n.2840-5T>A
ENST00000382297.7:c.3554-5T>A MANE Select	ENSP00000371734.2:n.3554-5T>A
ENST00000674102.1:c.3554-5T>A	ENSP00000501167.1:n.3554-5T>A
ENST00000382286.2:c.309-5T>A
ENST00000382289.6:c.554-5T>A	ENSP00000371726.2:n.554-5T>A
ENST00000382293.7:c.3080-5T>A	ENSP00000371730.3:n.3080-5T>A
ENST00000382297.6:c.3554-5T>A	ENSP00000371734.2:n.3554-5T>A
ENST00000382303.5:c.3554-5T>A	ENSP00000371740.1:n.3554-5T>A
ENST00000489369.5:n.5820-5T>A
ENST00000619269.4:c.3554-5T>A	ENSP00000477725.1:n.3554-5T>A
NM_001256876.1:c.3554-5T>A	NP_001243805.1:n.3554-5T>A
NM_001256877.1:c.3554-5T>A	NP_001243806.1:n.3554-5T>A
NM_015158.3:c.3554-5T>A	NP_055973.2:n.3554-5T>A
NM_153186.4:c.3080-5T>A	NP_694856.1:n.3080-5T>A
XM_005251411.2:c.3554-5T>A	XP_005251468.1:n.3554-5T>A
XM_005251414.2:c.3080-5T>A	XP_005251471.1:n.3080-5T>A
XM_005251415.2:c.3080-5T>A	XP_005251472.1:n.3080-5T>A
XM_005251416.2:c.3080-5T>A	XP_005251473.1:n.3080-5T>A
XM_005251417.2:c.3080-5T>A	XP_005251474.1:n.3080-5T>A
XM_005251418.2:c.3080-5T>A	XP_005251475.1:n.3080-5T>A
XM_005251419.2:c.3080-5T>A	XP_005251476.1:n.3080-5T>A
XM_006716743.2:c.3554-5T>A	XP_006716806.1:n.3554-5T>A
XM_011517817.1:c.3554-5T>A	XP_011516119.1:n.3554-5T>A
XM_011517818.1:c.3554-5T>A	XP_011516120.1:n.3554-5T>A
XM_011517819.1:c.3554-5T>A	XP_011516121.1:n.3554-5T>A
XM_011517820.1:c.3554-5T>A	XP_011516122.1:n.3554-5T>A
XM_011517821.1:c.3554-5T>A	XP_011516123.1:n.3554-5T>A
XM_011517822.1:c.3500-5T>A	XP_011516124.1:n.3500-5T>A
XM_011517823.1:c.3500-5T>A	XP_011516125.1:n.3500-5T>A
XM_011517824.1:c.3314-5T>A	XP_011516126.1:n.3314-5T>A
XM_011517825.1:c.3080-5T>A	XP_011516127.1:n.3080-5T>A
NM_001256876.2:c.3554-5T>A	NP_001243805.1:n.3554-5T>A
NM_001256877.2:c.3554-5T>A	NP_001243806.1:n.3554-5T>A
NM_001354331.1:c.3314-5T>A	NP_001341260.1:n.3314-5T>A
NM_001354332.1:c.3500-5T>A	NP_001341261.1:n.3500-5T>A
NM_001354333.1:c.3080-5T>A	NP_001341262.1:n.3080-5T>A
NM_001354334.1:c.3554-5T>A	NP_001341263.1:n.3554-5T>A
NM_001354335.1:c.3080-5T>A	NP_001341264.1:n.3080-5T>A
NM_001354336.1:c.2786-5T>A	NP_001341265.1:n.2786-5T>A
NM_001354337.1:c.3080-5T>A	NP_001341266.1:n.3080-5T>A
NM_001354338.1:c.3026-5T>A	NP_001341267.1:n.3026-5T>A
NM_001354339.1:c.2840-5T>A	NP_001341268.1:n.2840-5T>A
NM_001354340.1:c.3026-5T>A	NP_001341269.1:n.3026-5T>A
NM_001354341.1:c.3080-5T>A	NP_001341270.1:n.3080-5T>A
NM_001354342.1:c.2840-5T>A	NP_001341271.1:n.2840-5T>A
NM_001354343.1:c.2840-5T>A	NP_001341272.1:n.2840-5T>A
NM_001354344.1:c.3026-5T>A	NP_001341273.1:n.3026-5T>A
NM_015158.4:c.3554-5T>A	NP_055973.2:n.3554-5T>A
NM_153186.5:c.3080-5T>A	NP_694856.1:n.3080-5T>A
NR_148869.1:n.4058-5T>A
XM_017014517.2:c.3500-5T>A	XP_016870006.1:n.3500-5T>A
XM_017014522.2:c.3314-5T>A	XP_016870011.1:n.3314-5T>A
XM_017014525.2:c.3260-5T>A	XP_016870014.1:n.3260-5T>A
XM_024447460.1:c.3554-5T>A	XP_024303228.1:n.3554-5T>A
XM_024447461.1:c.3554-5T>A	XP_024303229.1:n.3554-5T>A
XM_024447462.1:c.3554-5T>A	XP_024303230.1:n.3554-5T>A
XM_024447463.1:c.3554-5T>A	XP_024303231.1:n.3554-5T>A
XM_024447464.1:c.3554-5T>A	XP_024303232.1:n.3554-5T>A
XM_024447465.1:c.3554-5T>A	XP_024303233.1:n.3554-5T>A
XM_024447466.1:c.3554-5T>A	XP_024303234.1:n.3554-5T>A
XM_024447467.1:c.3554-5T>A	XP_024303235.1:n.3554-5T>A
XM_024447468.1:c.3554-5T>A	XP_024303236.1:n.3554-5T>A
XM_024447469.1:c.3314-5T>A	XP_024303237.1:n.3314-5T>A
XM_024447470.1:c.3080-5T>A	XP_024303238.1:n.3080-5T>A
XM_024447471.1:c.3026-5T>A	XP_024303239.1:n.3026-5T>A
XR_002956771.1:n.4592-5T>A
NM_015158.5:c.3554-5T>A MANE Select	NP_055973.2:n.3554-5T>A
NM_001256876.3:c.3554-5T>A	NP_001243805.1:n.3554-5T>A
NM_001256877.3:c.3554-5T>A	NP_001243806.1:n.3554-5T>A
NM_001354331.2:c.3314-5T>A	NP_001341260.1:n.3314-5T>A
NM_001354332.2:c.3500-5T>A	NP_001341261.1:n.3500-5T>A
NM_001354333.2:c.3080-5T>A	NP_001341262.1:n.3080-5T>A
NM_001354334.2:c.3554-5T>A	NP_001341263.1:n.3554-5T>A
NM_001354335.2:c.3080-5T>A	NP_001341264.1:n.3080-5T>A
NM_001354336.2:c.2786-5T>A	NP_001341265.1:n.2786-5T>A
NM_001354337.2:c.3080-5T>A	NP_001341266.1:n.3080-5T>A
NM_001354338.2:c.3026-5T>A	NP_001341267.1:n.3026-5T>A
NM_001354339.2:c.2840-5T>A	NP_001341268.1:n.2840-5T>A
NM_001354340.2:c.3026-5T>A	NP_001341269.1:n.3026-5T>A
NM_001354341.2:c.3080-5T>A	NP_001341270.1:n.3080-5T>A
NM_001354342.2:c.2840-5T>A	NP_001341271.1:n.2840-5T>A
NM_001354343.2:c.2840-5T>A	NP_001341272.1:n.2840-5T>A
NM_001354344.2:c.3026-5T>A	NP_001341273.1:n.3026-5T>A
NM_153186.6:c.3080-5T>A	NP_694856.1:n.3080-5T>A
NR_148869.2:n.3682-5T>A

Linked Data

Genomic Alleles

Transcript Alleles