Canonical Allele Identifier: CA2153356923

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945680C= , CM000676.2:g.87945680C=	GRCh38
NC_000014.8:g.88412024C= , CM000676.1:g.88412024C=	GRCh37
NC_000014.7:g.87481777C=	NCBI36
NG_011853.2:g.52884G=
NG_011853.3:g.52884G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1543G= MANE Select	NP_000144.2:p.Glu515=
ENST00000261304.7:c.1543G= MANE Select	ENSP00000261304.2:p.Glu515=
NM_000153.3:c.1543G=	NP_000144.2:p.Glu515=
NM_001201401.1:c.1474G=	NP_001188330.1:p.Glu492=
NM_001201401.2:c.1474G=	NP_001188330.1:p.Glu492=
NM_001201402.1:c.1465G=	NP_001188331.1:p.Glu489=
NM_001201402.2:c.1465G=	NP_001188331.1:p.Glu489=
ENST00000261304.6:c.1543G=	ENSP00000261304.2:p.Glu515=
ENST00000393568.8:c.1474G=	ENSP00000377198.4:p.Glu492=
ENST00000393569.6:c.1465G=	ENSP00000377199.2:p.Glu489=
ENST00000544807.6:c.1375G=	ENSP00000437513.2:p.Glu459=
ENST00000555000.5:c.910G=	ENSP00000450472.1:p.Glu304=
ENST00000555179.1:c.206+2048G=
ENST00000557316.5:c.*941G=	ENSP00000452314.1:n.*941G=
XM_011536618.1:c.1375G=	XP_011534920.1:p.Glu459=
XM_011536618.2:c.1375G=	XP_011534920.1:p.Glu459=