Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15972817C>T , CM000663.2:g.15972817C>T	GRCh38
NC_000001.10:g.16299312C>T , CM000663.1:g.16299312C>T	GRCh37
NC_000001.9:g.16171899C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000375743.9:c.-3+222G>A MANE Select	ENSP00000364895.4:n.-3+222G>A
ENST00000375733.6:c.-3+222G>A	ENSP00000364885.2:n.-3+222G>A
ENST00000375743.8:c.-3+222G>A	ENSP00000364895.4:n.-3+222G>A
ENST00000479282.5:n.209+222G>A
ENST00000537142.5:c.-64+222G>A	ENSP00000438529.1:n.-64+222G>A
NM_001242884.1:c.-64+222G>A	NP_001229813.1:n.-64+222G>A
NM_001287603.1:c.-3+222G>A	NP_001274532.1:n.-3+222G>A
NM_001287604.1:c.-227+222G>A	NP_001274533.1:n.-227+222G>A
NM_003443.2:c.-3+222G>A	NP_003434.2:n.-3+222G>A
XM_005245986.1:c.-3+222G>A	XP_005246043.1:n.-3+222G>A
XM_005245987.1:c.-227+222G>A	XP_005246044.1:n.-227+222G>A
XM_011542085.1:c.-24+222G>A	XP_011540387.1:n.-24+222G>A
XM_011542086.1:c.-271+222G>A	XP_011540388.1:n.-271+222G>A
XM_011542087.1:c.-64+222G>A	XP_011540389.1:n.-64+222G>A
XM_011542088.1:c.-271+222G>A	XP_011540390.1:n.-271+222G>A
XM_011542089.1:c.-3+222G>A	XP_011540391.1:n.-3+222G>A
NM_001324137.1:c.-24+222G>A	NP_001311066.1:n.-24+222G>A
NM_001324138.1:c.-3+222G>A	NP_001311067.1:n.-3+222G>A
XM_005245986.2:c.-3+222G>A	XP_005246043.1:n.-3+222G>A
XM_005245987.2:c.-227+222G>A	XP_005246044.1:n.-227+222G>A
XM_011542085.3:c.-24+222G>A	XP_011540387.1:n.-24+222G>A
XM_011542086.2:c.-271+222G>A	XP_011540388.1:n.-271+222G>A
XM_011542087.3:c.-64+222G>A	XP_011540389.1:n.-64+222G>A
XR_001737399.1:n.237+222G>A
NM_001242884.2:c.-64+222G>A	NP_001229813.1:n.-64+222G>A
NM_001287603.2:c.-3+222G>A	NP_001274532.1:n.-3+222G>A
NM_001287604.2:c.-227+222G>A	NP_001274533.1:n.-227+222G>A
NM_001324137.2:c.-24+222G>A	NP_001311066.1:n.-24+222G>A
NM_001324138.2:c.-3+222G>A	NP_001311067.1:n.-3+222G>A
NM_003443.3:c.-3+222G>A MANE Select	NP_003434.2:n.-3+222G>A

Linked Data

Genomic Alleles

Transcript Alleles