Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28947614G>A , CM000677.2:g.28947614G>A	GRCh38
NC_000015.9:g.29239817G>A , CM000677.1:g.29239817G>A	GRCh37
NC_000015.8:g.27027109G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683413.1:c.-95+25865G>A MANE Select	ENSP00000507394.1:n.-95+25865G>A
ENST00000411764.5:c.-95+25865G>A	ENSP00000409312.1:n.-95+25865G>A
ENST00000558259.5:c.-95+25865G>A	ENSP00000454171.1:n.-95+25865G>A
ENST00000558330.5:c.-95+25865G>A	ENSP00000452722.1:n.-95+25865G>A
ENST00000558402.5:c.-95+25865G>A	ENSP00000453293.1:n.-95+25865G>A
ENST00000558804.5:c.-95+25865G>A	ENSP00000454001.1:n.-95+25865G>A
ENST00000559709.5:c.-95+25865G>A	ENSP00000452699.1:n.-95+25865G>A
ENST00000559814.5:n.229+25865G>A
ENST00000561069.5:c.-95+25896G>A	ENSP00000453144.1:n.-95+25896G>A
NM_001130414.1:c.-95+25865G>A	NP_001123886.1:n.-95+25865G>A
NM_005503.3:c.-95+25865G>A	NP_005494.2:n.-95+25865G>A
XM_011521488.1:c.-95+25865G>A	XP_011519790.1:n.-95+25865G>A
XM_011521489.1:c.-285+25865G>A	XP_011519791.1:n.-285+25865G>A
XM_011521490.1:c.-285+25896G>A	XP_011519792.1:n.-285+25896G>A
NM_001353788.1:c.-95+25865G>A	NP_001340717.1:n.-95+25865G>A
NM_001353789.1:c.-95+25896G>A	NP_001340718.1:n.-95+25896G>A
NM_001353790.1:c.-95+25719G>A	NP_001340719.1:n.-95+25719G>A
NM_001353791.1:c.-95+13360G>A	NP_001340720.1:n.-95+13360G>A
NM_001353792.1:c.-95+25865G>A	NP_001340721.1:n.-95+25865G>A
NM_001353793.1:c.-95+13360G>A	NP_001340722.1:n.-95+13360G>A
NM_001353795.1:c.-95+25865G>A	NP_001340724.1:n.-95+25865G>A
XM_011521488.3:c.-95+25865G>A	XP_011519790.1:n.-95+25865G>A
XM_011521489.2:c.-285+25865G>A	XP_011519791.1:n.-285+25865G>A
XM_011521490.2:c.-285+25896G>A	XP_011519792.1:n.-285+25896G>A
XM_017022110.1:c.-281+25865G>A	XP_016877599.1:n.-281+25865G>A
NM_001353788.2:c.-95+25865G>A MANE Select	NP_001340717.1:n.-95+25865G>A
NM_001353789.2:c.-95+25896G>A	NP_001340718.1:n.-95+25896G>A
NM_001353790.2:c.-95+25719G>A	NP_001340719.1:n.-95+25719G>A
NM_001353791.2:c.-95+13360G>A	NP_001340720.1:n.-95+13360G>A
NM_001353792.2:c.-95+25865G>A	NP_001340721.1:n.-95+25865G>A
NM_001353793.2:c.-95+13360G>A	NP_001340722.1:n.-95+13360G>A
NM_001353795.2:c.-95+25865G>A	NP_001340724.1:n.-95+25865G>A
NM_001379685.1:c.-95+25865G>A	NP_001366614.1:n.-95+25865G>A