Canonical Allele Identifier: CA2153358818

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947791T= , CM000676.2:g.87947791T=	GRCh38
NC_000014.8:g.88414135T= , CM000676.1:g.88414135T=	GRCh37
NC_000014.7:g.87483888T=	NCBI36
NG_011853.2:g.50773A=
NG_011853.3:g.50773A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1426A= MANE Select	NP_000144.2:p.Ser476=
ENST00000261304.7:c.1426A= MANE Select	ENSP00000261304.2:p.Ser476=
NM_000153.3:c.1426A=	NP_000144.2:p.Ser476=
NM_001201401.1:c.1357A=	NP_001188330.1:p.Ser453=
NM_001201401.2:c.1357A=	NP_001188330.1:p.Ser453=
NM_001201402.1:c.1348A=	NP_001188331.1:p.Ser450=
NM_001201402.2:c.1348A=	NP_001188331.1:p.Ser450=
ENST00000261304.6:c.1426A=	ENSP00000261304.2:p.Ser476=
ENST00000393568.8:c.1357A=	ENSP00000377198.4:p.Ser453=
ENST00000393569.6:c.1348A=	ENSP00000377199.2:p.Ser450=
ENST00000544807.6:c.1258A=	ENSP00000437513.2:p.Ser420=
ENST00000555000.5:c.793A=	ENSP00000450472.1:p.Ser265=
ENST00000555179.1:c.143A=
ENST00000557316.5:c.*824A=	ENSP00000452314.1:n.*824A=
XM_011536618.1:c.1258A=	XP_011534920.1:p.Ser420=
XM_011536618.2:c.1258A=	XP_011534920.1:p.Ser420=