Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77205619T>A , CM000673.2:g.77205619T>A	GRCh38
NC_000011.9:g.76916664T>A , CM000673.1:g.76916664T>A	GRCh37
NC_000011.8:g.76594312T>A	NCBI36
NG_009086.1:g.82355T>A
NG_009086.2:g.82374T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.5636+2T>A MANE Select	ENSP00000386331.3:n.5636+2T>A
ENST00000670577.1:c.3463+2T>A
ENST00000409619.6:c.5489+2T>A	ENSP00000386635.2:n.5489+2T>A
ENST00000409709.7:c.5636+2T>A	ENSP00000386331.3:n.5636+2T>A
ENST00000458169.2:c.3062+2T>A	ENSP00000417017.2:n.3062+2T>A
ENST00000458637.6:c.5522+2T>A	ENSP00000392185.2:n.5522+2T>A
ENST00000481328.7:n.3172+2T>A
ENST00000605744.1:n.257+2T>A
NM_000260.3:c.5636+2T>A	NP_000251.3:n.5636+2T>A
NM_001127180.1:c.5522+2T>A	NP_001120652.1:n.5522+2T>A
XM_005274012.2:c.5519+2T>A	XP_005274069.1:n.5519+2T>A
XM_006718558.2:c.5627+2T>A	XP_006718621.1:n.5627+2T>A
XM_006718559.2:c.5522+2T>A	XP_006718622.1:n.5522+2T>A
XM_006718560.2:c.5519+2T>A	XP_006718623.1:n.5519+2T>A
XM_006718561.2:c.5522+2T>A	XP_006718624.1:n.5522+2T>A
XM_011545044.1:c.5636+2T>A	XP_011543346.1:n.5636+2T>A
XM_011545045.1:c.5630+2T>A	XP_011543347.1:n.5630+2T>A
XM_011545046.1:c.5603+2T>A	XP_011543348.1:n.5603+2T>A
XM_011545047.1:c.5540+2T>A	XP_011543349.1:n.5540+2T>A
XM_011545048.1:c.5411+2T>A	XP_011543350.1:n.5411+2T>A
XM_011545049.1:c.5399+2T>A	XP_011543351.1:n.5399+2T>A
XM_011545050.1:c.5372+2T>A	XP_011543352.1:n.5372+2T>A
XM_011545051.1:c.5636+2T>A	XP_011543353.1:n.5636+2T>A
XM_011545052.1:c.*1+2T>A	XP_011543354.1:n.*1+2T>A
XR_949938.1:n.5956+2T>A
XR_949941.1:n.5956+2T>A
XM_011545044.2:c.5636+2T>A	XP_011543346.1:n.5636+2T>A
XM_011545046.2:c.5726+2T>A	XP_011543348.2:n.5726+2T>A
XM_011545050.2:c.5372+2T>A	XP_011543352.1:n.5372+2T>A
XM_017017778.1:c.5720+2T>A	XP_016873267.1:n.5720+2T>A
XM_017017779.1:c.5717+2T>A	XP_016873268.1:n.5717+2T>A
XM_017017780.1:c.5726+2T>A	XP_016873269.1:n.5726+2T>A
XM_017017781.1:c.5630+2T>A	XP_016873270.1:n.5630+2T>A
XM_017017782.1:c.5612+2T>A	XP_016873271.1:n.5612+2T>A
XM_017017783.1:c.5609+2T>A	XP_016873272.1:n.5609+2T>A
XM_017017784.1:c.5609+2T>A	XP_016873273.1:n.5609+2T>A
XM_017017785.1:c.5489+2T>A	XP_016873274.1:n.5489+2T>A
XM_017017786.1:c.5726+2T>A	XP_016873275.1:n.5726+2T>A
XM_017017788.1:c.5612+2T>A	XP_016873277.1:n.5612+2T>A
XR_001747885.1:n.5741+2T>A
XR_001747886.1:n.5656+2T>A
XR_001747887.1:n.5727+2T>A
NM_000260.4:c.5636+2T>A MANE Select	NP_000251.3:n.5636+2T>A
NM_001127180.2:c.5522+2T>A	NP_001120652.1:n.5522+2T>A
NM_001369365.1:c.5489+2T>A	NP_001356294.1:n.5489+2T>A

Linked Data

Genomic Alleles

Transcript Alleles