Canonical Allele Identifier: CA2153356821

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945624A= , CM000676.2:g.87945624A=	GRCh38
NC_000014.8:g.88411968A= , CM000676.1:g.88411968A=	GRCh37
NC_000014.7:g.87481721A=	NCBI36
NG_011853.2:g.52940T=
NG_011853.3:g.52940T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1599T= MANE Select	ENSP00000261304.2:p.Val533=
ENST00000261304.6:c.1599T=	ENSP00000261304.2:p.Val533=
ENST00000393568.8:c.1530T=	ENSP00000377198.4:p.Val510=
ENST00000393569.6:c.1521T=	ENSP00000377199.2:p.Val507=
ENST00000544807.6:c.1431T=	ENSP00000437513.2:p.Val477=
ENST00000555000.5:c.966T=	ENSP00000450472.1:p.Val322=
ENST00000555179.1:c.206+2104T=
ENST00000557316.5:c.*997T=	ENSP00000452314.1:n.*997T=
NM_000153.3:c.1599T=	NP_000144.2:p.Val533=
NM_001201401.1:c.1530T=	NP_001188330.1:p.Val510=
NM_001201402.1:c.1521T=	NP_001188331.1:p.Val507=
XM_011536618.1:c.1431T=	XP_011534920.1:p.Val477=
XM_011536618.2:c.1431T=	XP_011534920.1:p.Val477=
NM_000153.4:c.1599T= MANE Select	NP_000144.2:p.Val533=
NM_001201401.2:c.1530T=	NP_001188330.1:p.Val510=
NM_001201402.2:c.1521T=	NP_001188331.1:p.Val507=