Canonical Allele Identifier: CA7296835

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934789T>G , CM000676.2:g.87934789T>G	GRCh38
NC_000014.8:g.88401133T>G , CM000676.1:g.88401133T>G	GRCh37
NC_000014.7:g.87470886T>G	NCBI36
NG_011853.2:g.63775A>C
NG_011853.3:g.63775A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.2001A>C MANE Select	NP_000144.2:p.Gly667=
ENST00000261304.7:c.2001A>C MANE Select	ENSP00000261304.2:p.Gly667=
NM_000153.3:c.2001A>C	NP_000144.2:p.Gly667=
NM_001201401.1:c.1932A>C	NP_001188330.1:p.Gly644=
NM_001201401.2:c.1932A>C	NP_001188330.1:p.Gly644=
NM_001201402.1:c.1923A>C	NP_001188331.1:p.Gly641=
NM_001201402.2:c.1923A>C	NP_001188331.1:p.Gly641=
ENST00000261304.6:c.2001A>C	ENSP00000261304.2:p.Gly667=
ENST00000393568.8:c.1932A>C	ENSP00000377198.4:p.Gly644=
ENST00000393569.6:c.1923A>C	ENSP00000377199.2:p.Gly641=
ENST00000544807.6:c.1744-790A>C	ENSP00000437513.2:n.1744-790A>C
ENST00000555000.5:c.1279-790A>C	ENSP00000450472.1:n.1279-790A>C
ENST00000555179.1:c.537A>C
XM_011536618.1:c.1833A>C	XP_011534920.1:p.Gly611=
XM_011536618.2:c.1833A>C	XP_011534920.1:p.Gly611=