Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.190470338A>T , CM000663.2:g.190470338A>T	GRCh38
NC_000001.10:g.190439468A>T , CM000663.1:g.190439468A>T	GRCh37
NC_000001.9:g.188706091A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367462.5:c.-51+7110T>A MANE Select	ENSP00000356432.3:n.-51+7110T>A
ENST00000367462.4:c.-51+7110T>A	ENSP00000356432.3:n.-51+7110T>A
ENST00000445957.2:c.-51+4070T>A	ENSP00000393441.2:n.-51+4070T>A
ENST00000631494.1:c.-51+5442T>A	ENSP00000487601.1:n.-51+5442T>A
NM_199051.1:c.-51+7110T>A	NP_950252.1:n.-51+7110T>A
XM_005245117.1:c.-51+7110T>A	XP_005245174.1:n.-51+7110T>A
XM_005245118.3:c.-51+4070T>A	XP_005245175.1:n.-51+4070T>A
XM_005245120.2:c.-51+5960T>A	XP_005245177.1:n.-51+5960T>A
XM_011509472.1:c.-166+4070T>A	XP_011507774.1:n.-166+4070T>A
XM_011509473.1:c.-166+5442T>A	XP_011507775.1:n.-166+5442T>A
XM_011509474.1:c.-166+7110T>A	XP_011507776.1:n.-166+7110T>A
XM_011509476.1:c.-166+4070T>A	XP_011507778.1:n.-166+4070T>A
NM_001317188.1:c.-166+5442T>A	NP_001304117.1:n.-166+5442T>A
NM_199051.2:c.-51+7110T>A	NP_950252.1:n.-51+7110T>A
XM_011509472.2:c.-166+4070T>A	XP_011507774.1:n.-166+4070T>A
XM_011509476.2:c.-166+4070T>A	XP_011507778.1:n.-166+4070T>A
XM_017001125.1:c.-51+4070T>A	XP_016856614.1:n.-51+4070T>A
XM_017001126.1:c.-51+5442T>A	XP_016856615.1:n.-51+5442T>A
XM_017001127.1:c.-166+7110T>A	XP_016856616.1:n.-166+7110T>A
XM_017001128.1:c.-166+5442T>A	XP_016856617.1:n.-166+5442T>A
XM_017001129.1:c.-166+7110T>A	XP_016856618.1:n.-166+7110T>A
XM_017001130.1:c.-166+5442T>A	XP_016856619.1:n.-166+5442T>A
XM_017001131.1:c.-1000+4070T>A	XP_016856620.1:n.-1000+4070T>A
XM_017001132.1:c.-51+4070T>A	XP_016856621.1:n.-51+4070T>A
XM_017001133.1:c.-51+4070T>A	XP_016856622.1:n.-51+4070T>A
NM_199051.3:c.-51+7110T>A MANE Select	NP_950252.1:n.-51+7110T>A
NM_001317188.2:c.-166+5442T>A	NP_001304117.1:n.-166+5442T>A

Linked Data

Genomic Alleles

Transcript Alleles