Canonical Allele Identifier: CA2153358910

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947860T= , CM000676.2:g.87947860T=	GRCh38
NC_000014.8:g.88414204T= , CM000676.1:g.88414204T=	GRCh37
NC_000014.7:g.87483957T=	NCBI36
NG_011853.2:g.50704A=
NG_011853.3:g.50704A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1357A= MANE Select	ENSP00000261304.2:p.Ser453=
ENST00000261304.6:c.1357A=	ENSP00000261304.2:p.Ser453=
ENST00000393568.8:c.1288A=	ENSP00000377198.4:p.Ser430=
ENST00000393569.6:c.1279A=	ENSP00000377199.2:p.Ser427=
ENST00000544807.6:c.1189A=	ENSP00000437513.2:p.Ser397=
ENST00000555000.5:c.724A=	ENSP00000450472.1:p.Ser242=
ENST00000555179.1:c.74A=
ENST00000557316.5:c.*755A=	ENSP00000452314.1:n.*755A=
NM_000153.3:c.1357A=	NP_000144.2:p.Ser453=
NM_001201401.1:c.1288A=	NP_001188330.1:p.Ser430=
NM_001201402.1:c.1279A=	NP_001188331.1:p.Ser427=
XM_011536618.1:c.1189A=	XP_011534920.1:p.Ser397=
XM_011536618.2:c.1189A=	XP_011534920.1:p.Ser397=
NM_000153.4:c.1357A= MANE Select	NP_000144.2:p.Ser453=
NM_001201401.2:c.1288A=	NP_001188330.1:p.Ser430=
NM_001201402.2:c.1279A=	NP_001188331.1:p.Ser427=