Canonical Allele Identifier: CA2153356960

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945708T= , CM000676.2:g.87945708T=	GRCh38
NC_000014.8:g.88412052T= , CM000676.1:g.88412052T=	GRCh37
NC_000014.7:g.87481805T=	NCBI36
NG_011853.2:g.52856A=
NG_011853.3:g.52856A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1515A= MANE Select	ENSP00000261304.2:p.Pro505=
ENST00000261304.6:c.1515A=	ENSP00000261304.2:p.Pro505=
ENST00000393568.8:c.1446A=	ENSP00000377198.4:p.Pro482=
ENST00000393569.6:c.1437A=	ENSP00000377199.2:p.Pro479=
ENST00000544807.6:c.1347A=	ENSP00000437513.2:p.Pro449=
ENST00000555000.5:c.882A=	ENSP00000450472.1:p.Pro294=
ENST00000555179.1:c.206+2020A=
ENST00000557316.5:c.*913A=	ENSP00000452314.1:n.*913A=
NM_000153.3:c.1515A=	NP_000144.2:p.Pro505=
NM_001201401.1:c.1446A=	NP_001188330.1:p.Pro482=
NM_001201402.1:c.1437A=	NP_001188331.1:p.Pro479=
XM_011536618.1:c.1347A=	XP_011534920.1:p.Pro449=
XM_011536618.2:c.1347A=	XP_011534920.1:p.Pro449=
NM_000153.4:c.1515A= MANE Select	NP_000144.2:p.Pro505=
NM_001201401.2:c.1446A=	NP_001188330.1:p.Pro482=
NM_001201402.2:c.1437A=	NP_001188331.1:p.Pro479=