Canonical Allele Identifier: CA2153356834

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945631C= , CM000676.2:g.87945631C=	GRCh38
NC_000014.8:g.88411975C= , CM000676.1:g.88411975C=	GRCh37
NC_000014.7:g.87481728C=	NCBI36
NG_011853.2:g.52933G=
NG_011853.3:g.52933G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1592G= MANE Select	ENSP00000261304.2:p.Arg531=
ENST00000261304.6:c.1592G=	ENSP00000261304.2:p.Arg531=
ENST00000393568.8:c.1523G=	ENSP00000377198.4:p.Arg508=
ENST00000393569.6:c.1514G=	ENSP00000377199.2:p.Arg505=
ENST00000544807.6:c.1424G=	ENSP00000437513.2:p.Arg475=
ENST00000555000.5:c.959G=	ENSP00000450472.1:p.Arg320=
ENST00000555179.1:c.206+2097G=
ENST00000557316.5:c.*990G=	ENSP00000452314.1:n.*990G=
NM_000153.3:c.1592G=	NP_000144.2:p.Arg531=
NM_001201401.1:c.1523G=	NP_001188330.1:p.Arg508=
NM_001201402.1:c.1514G=	NP_001188331.1:p.Arg505=
XM_011536618.1:c.1424G=	XP_011534920.1:p.Arg475=
XM_011536618.2:c.1424G=	XP_011534920.1:p.Arg475=
NM_000153.4:c.1592G= MANE Select	NP_000144.2:p.Arg531=
NM_001201401.2:c.1523G=	NP_001188330.1:p.Arg508=
NM_001201402.2:c.1514G=	NP_001188331.1:p.Arg505=