Canonical Allele Identifier: CA2153345185

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965507G= , CM000676.2:g.87965507G=	GRCh38
NC_000014.8:g.88431851G= , CM000676.1:g.88431851G=	GRCh37
NC_000014.7:g.87501604G=	NCBI36
NG_011853.2:g.33057C=
NG_011853.3:g.33057C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1031C= MANE Select	ENSP00000261304.2:p.Ser344=
ENST00000261304.6:c.1031C=	ENSP00000261304.2:p.Ser344=
ENST00000393568.8:c.962C=	ENSP00000377198.4:p.Ser321=
ENST00000393569.6:c.953C=	ENSP00000377199.2:p.Ser318=
ENST00000474294.6:n.1021C=
ENST00000544807.6:c.863C=	ENSP00000437513.2:p.Ser288=
ENST00000555000.5:c.398C=	ENSP00000450472.1:p.Ser133=
ENST00000557316.5:c.*429C=	ENSP00000452314.1:n.*429C=
ENST00000557520.1:n.117C=
ENST00000622264.4:c.1021C=
NM_000153.3:c.1031C=	NP_000144.2:p.Ser344=
NM_001201401.1:c.962C=	NP_001188330.1:p.Ser321=
NM_001201402.1:c.953C=	NP_001188331.1:p.Ser318=
XM_011536618.1:c.863C=	XP_011534920.1:p.Ser288=
XM_011536618.2:c.863C=	XP_011534920.1:p.Ser288=
NM_000153.4:c.1031C= MANE Select	NP_000144.2:p.Ser344=
NM_001201401.2:c.962C=	NP_001188330.1:p.Ser321=
NM_001201402.2:c.953C=	NP_001188331.1:p.Ser318=