Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37148893C>G , CM000665.2:g.37148893C>G	GRCh38
NC_000003.11:g.37190384C>G , CM000665.1:g.37190384C>G	GRCh37
NC_000003.10:g.37165388C>G	NCBI36
NG_053016.1:g.32925G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336686.9:c.90+1G>C MANE Select	ENSP00000338727.4:n.90+1G>C
ENST00000336686.8:c.90+1G>C	ENSP00000338727.4:n.90+1G>C
ENST00000354379.8:c.90+1G>C	ENSP00000346349.4:n.90+1G>C
ENST00000396428.6:c.90+1G>C	ENSP00000379705.2:n.90+1G>C
ENST00000416425.5:c.90+1G>C	ENSP00000409574.1:n.90+1G>C
ENST00000421276.6:c.90+1G>C	ENSP00000416364.2:n.90+1G>C
ENST00000434749.5:c.90+1G>C	ENSP00000416907.1:n.90+1G>C
ENST00000436858.5:c.90+1G>C	ENSP00000416013.1:n.90+1G>C
ENST00000438374.5:c.90+1G>C	ENSP00000412206.1:n.90+1G>C
ENST00000440230.5:c.90+1G>C	ENSP00000405480.1:n.90+1G>C
ENST00000452742.5:c.90+1G>C	ENSP00000391360.1:n.90+1G>C
ENST00000461672.5:n.403+1G>C
NM_001134369.2:c.90+1G>C	NP_001127841.1:n.90+1G>C
NM_001282691.1:c.90+1G>C	NP_001269620.1:n.90+1G>C
NM_006309.3:c.90+1G>C	NP_006300.1:n.90+1G>C
NM_017724.2:c.90+1G>C	NP_060194.1:n.90+1G>C
XM_005265538.2:c.90+1G>C	XP_005265595.1:n.90+1G>C
XM_005265539.2:c.90+1G>C	XP_005265596.1:n.90+1G>C
XM_005265540.1:c.90+1G>C	XP_005265597.1:n.90+1G>C
XM_005265550.1:c.90+1G>C	XP_005265607.1:n.90+1G>C
XM_005265551.1:c.90+1G>C	XP_005265608.1:n.90+1G>C
XM_005265553.1:c.90+1G>C	XP_005265610.1:n.90+1G>C
XM_005265554.2:c.90+1G>C	XP_005265611.1:n.90+1G>C
XM_005265555.1:c.90+1G>C	XP_005265612.1:n.90+1G>C
XM_005265556.1:c.90+1G>C	XP_005265613.1:n.90+1G>C
XM_005265557.1:c.90+1G>C	XP_005265614.1:n.90+1G>C
XM_006713385.1:c.90+1G>C	XP_006713448.1:n.90+1G>C
XM_006713386.1:c.90+1G>C	XP_006713449.1:n.90+1G>C
XM_006713387.1:c.90+1G>C	XP_006713450.1:n.90+1G>C
XM_006713388.1:c.90+1G>C	XP_006713451.1:n.90+1G>C
XM_006713389.1:c.90+1G>C	XP_006713452.1:n.90+1G>C
XM_006713390.1:c.90+1G>C	XP_006713453.1:n.90+1G>C
XM_006713392.1:c.90+1G>C	XP_006713455.1:n.90+1G>C
XM_006713393.1:c.90+1G>C	XP_006713456.1:n.90+1G>C
XM_006713394.1:c.90+1G>C	XP_006713457.1:n.90+1G>C
XM_006713395.1:c.90+1G>C	XP_006713458.1:n.90+1G>C
XM_006713396.1:c.90+1G>C	XP_006713459.1:n.90+1G>C
XM_006713397.1:c.90+1G>C	XP_006713460.1:n.90+1G>C
XM_006713399.1:c.90+1G>C	XP_006713462.1:n.90+1G>C
XM_006713400.1:c.90+1G>C	XP_006713463.1:n.90+1G>C
XM_006713402.1:c.90+1G>C	XP_006713465.1:n.90+1G>C
XM_006713403.2:c.90+1G>C	XP_006713466.1:n.90+1G>C
XM_006713404.1:c.90+1G>C	XP_006713467.1:n.90+1G>C
XM_011534217.1:c.90+1G>C	XP_011532519.1:n.90+1G>C
XM_011534218.1:c.90+1G>C	XP_011532520.1:n.90+1G>C
XM_011534219.1:c.90+1G>C	XP_011532521.1:n.90+1G>C
XM_011534220.1:c.90+1G>C	XP_011532522.1:n.90+1G>C
XM_011534221.1:c.90+1G>C	XP_011532523.1:n.90+1G>C
XM_011534222.1:c.90+1G>C	XP_011532524.1:n.90+1G>C
XM_011534223.1:c.90+1G>C	XP_011532525.1:n.90+1G>C
XM_011534224.1:c.90+1G>C	XP_011532526.1:n.90+1G>C
XM_011534225.1:c.90+1G>C	XP_011532527.1:n.90+1G>C
XM_011534226.1:c.90+1G>C	XP_011532528.1:n.90+1G>C
XM_011534227.1:c.90+1G>C	XP_011532529.1:n.90+1G>C
XM_011534228.1:c.90+1G>C	XP_011532530.1:n.90+1G>C
XM_011534229.1:c.90+1G>C	XP_011532531.1:n.90+1G>C
NM_001348297.1:c.90+1G>C	NP_001335226.1:n.90+1G>C
NM_001348298.1:c.90+1G>C	NP_001335227.1:n.90+1G>C
NM_001348299.1:c.90+1G>C	NP_001335228.1:n.90+1G>C
NM_001348300.1:c.90+1G>C	NP_001335229.1:n.90+1G>C
NM_001348301.1:c.90+1G>C	NP_001335230.1:n.90+1G>C
NM_001348302.1:c.90+1G>C	NP_001335231.1:n.90+1G>C
NM_001348303.1:c.90+1G>C	NP_001335232.1:n.90+1G>C
NM_001348304.1:c.90+1G>C	NP_001335233.1:n.90+1G>C
NM_001348305.1:c.90+1G>C	NP_001335234.1:n.90+1G>C
NM_001348306.1:c.90+1G>C	NP_001335235.1:n.90+1G>C
NM_001348307.1:c.90+1G>C	NP_001335236.1:n.90+1G>C
NM_001348308.1:c.90+1G>C	NP_001335237.1:n.90+1G>C
NM_001348309.1:c.90+1G>C	NP_001335238.1:n.90+1G>C
NM_001348310.1:c.90+1G>C	NP_001335239.1:n.90+1G>C
NM_001348311.1:c.90+1G>C	NP_001335240.1:n.90+1G>C
XM_017007466.1:c.90+1G>C	XP_016862955.1:n.90+1G>C
XM_017007467.1:c.90+1G>C	XP_016862956.1:n.90+1G>C
XM_017007469.1:c.90+1G>C	XP_016862958.1:n.90+1G>C
XM_017007471.1:c.90+1G>C	XP_016862960.1:n.90+1G>C
XM_017007472.1:c.90+1G>C	XP_016862961.1:n.90+1G>C
XM_017007473.1:c.90+1G>C	XP_016862962.1:n.90+1G>C
XM_017007476.1:c.90+1G>C	XP_016862965.1:n.90+1G>C
XM_017007479.1:c.90+1G>C	XP_016862968.1:n.90+1G>C
XM_017007484.1:c.90+1G>C	XP_016862973.1:n.90+1G>C
XM_024453820.1:c.90+1G>C	XP_024309588.1:n.90+1G>C
XM_024453821.1:c.90+1G>C	XP_024309589.1:n.90+1G>C
XM_024453823.1:c.90+1G>C	XP_024309591.1:n.90+1G>C
XM_024453824.1:c.90+1G>C	XP_024309592.1:n.90+1G>C
XM_024453826.1:c.90+1G>C	XP_024309594.1:n.90+1G>C
XR_001740363.1:n.480+1G>C
NM_006309.4:c.90+1G>C MANE Select	NP_006300.1:n.90+1G>C

Linked Data

Genomic Alleles

Transcript Alleles