Canonical Allele Identifier: CA2153350325

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934749C= , CM000676.2:g.87934749C=	GRCh38
NC_000014.8:g.88401093C= , CM000676.1:g.88401093C=	GRCh37
NC_000014.7:g.87470846C=	NCBI36
NG_011853.2:g.63815G=
NG_011853.3:g.63815G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2041G= MANE Select	ENSP00000261304.2:p.Val681=
ENST00000261304.6:c.2041G=	ENSP00000261304.2:p.Val681=
ENST00000393568.8:c.1972G=	ENSP00000377198.4:p.Val658=
ENST00000393569.6:c.1963G=	ENSP00000377199.2:p.Val655=
ENST00000544807.6:c.1744-750G=	ENSP00000437513.2:n.1744-750G=
ENST00000555000.5:c.1279-750G=	ENSP00000450472.1:n.1279-750G=
NM_000153.3:c.2041G=	NP_000144.2:p.Val681=
NM_001201401.1:c.1972G=	NP_001188330.1:p.Val658=
NM_001201402.1:c.1963G=	NP_001188331.1:p.Val655=
XM_011536618.1:c.1873G=	XP_011534920.1:p.Val625=
XM_011536618.2:c.1873G=	XP_011534920.1:p.Val625=
NM_000153.4:c.2041G= MANE Select	NP_000144.2:p.Val681=
NM_001201401.2:c.1972G=	NP_001188330.1:p.Val658=
NM_001201402.2:c.1963G=	NP_001188331.1:p.Val655=