Canonical Allele Identifier: CA2153386594

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986551C= , CM000676.2:g.87986551C=	GRCh38
NC_000014.8:g.88452895C= , CM000676.1:g.88452895C=	GRCh37
NC_000014.7:g.87522648C=	NCBI36
NG_011853.2:g.12013G=
NG_011853.3:g.12013G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.380G= MANE Select	ENSP00000261304.2:p.Arg127=
ENST00000261304.6:c.380G=	ENSP00000261304.2:p.Arg127=
ENST00000393568.8:c.311G=	ENSP00000377198.4:p.Arg104=
ENST00000393569.6:c.302G=	ENSP00000377199.2:p.Arg101=
ENST00000474294.6:n.370G=
ENST00000544807.6:c.212G=	ENSP00000437513.2:p.Arg71=
ENST00000554372.5:c.*129G=	ENSP00000451884.1:n.*129G=
ENST00000554916.5:n.259G=
ENST00000556261.5:n.81G=
ENST00000556879.5:c.440G=	ENSP00000452208.1:n.440G=
ENST00000557316.5:c.380G=	ENSP00000452314.1:p.Arg127=
ENST00000622264.4:c.370G=
NM_000153.3:c.380G=	NP_000144.2:p.Arg127=
NM_001201401.1:c.311G=	NP_001188330.1:p.Arg104=
NM_001201402.1:c.302G=	NP_001188331.1:p.Arg101=
XM_011536618.1:c.212G=	XP_011534920.1:p.Arg71=
XM_011536618.2:c.212G=	XP_011534920.1:p.Arg71=
NM_000153.4:c.380G= MANE Select	NP_000144.2:p.Arg127=
NM_001201401.2:c.311G=	NP_001188330.1:p.Arg104=
NM_001201402.2:c.302G=	NP_001188331.1:p.Arg101=