Canonical Allele Identifier: CA2153353361

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941438G= , CM000676.2:g.87941438G=	GRCh38
NC_000014.8:g.88407782G= , CM000676.1:g.88407782G=	GRCh37
NC_000014.7:g.87477535G=	NCBI36
NG_011853.2:g.57126C=
NG_011853.3:g.57126C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1791C= MANE Select	ENSP00000261304.2:p.Phe597=
ENST00000261304.6:c.1791C=	ENSP00000261304.2:p.Phe597=
ENST00000393568.8:c.1722C=	ENSP00000377198.4:p.Phe574=
ENST00000393569.6:c.1713C=	ENSP00000377199.2:p.Phe571=
ENST00000544807.6:c.1623C=	ENSP00000437513.2:p.Phe541=
ENST00000555000.5:c.1158C=	ENSP00000450472.1:p.Phe386=
ENST00000555179.1:c.327C=
ENST00000557316.5:c.*1189C=	ENSP00000452314.1:n.*1189C=
NM_000153.3:c.1791C=	NP_000144.2:p.Phe597=
NM_001201401.1:c.1722C=	NP_001188330.1:p.Phe574=
NM_001201402.1:c.1713C=	NP_001188331.1:p.Phe571=
XM_011536618.1:c.1623C=	XP_011534920.1:p.Phe541=
XM_011536618.2:c.1623C=	XP_011534920.1:p.Phe541=
NM_000153.4:c.1791C= MANE Select	NP_000144.2:p.Phe597=
NM_001201401.2:c.1722C=	NP_001188330.1:p.Phe574=
NM_001201402.2:c.1713C=	NP_001188331.1:p.Phe571=