Canonical Allele Identifier: CA7296890

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939958C>T , CM000676.2:g.87939958C>T	GRCh38
NC_000014.8:g.88406302C>T , CM000676.1:g.88406302C>T	GRCh37
NC_000014.7:g.87476055C>T	NCBI36
NG_011853.2:g.58606G>A
NG_011853.3:g.58606G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1858G>A MANE Select	NP_000144.2:p.Gly620Arg
ENST00000261304.7:c.1858G>A MANE Select	ENSP00000261304.2:p.Gly620Arg
NM_000153.3:c.1858G>A	NP_000144.2:p.Gly620Arg
NM_001201401.1:c.1789G>A	NP_001188330.1:p.Gly597Arg
NM_001201401.2:c.1789G>A	NP_001188330.1:p.Gly597Arg
NM_001201402.1:c.1780G>A	NP_001188331.1:p.Gly594Arg
NM_001201402.2:c.1780G>A	NP_001188331.1:p.Gly594Arg
ENST00000261304.6:c.1858G>A	ENSP00000261304.2:p.Gly620Arg
ENST00000393568.8:c.1789G>A	ENSP00000377198.4:p.Gly597Arg
ENST00000393569.6:c.1780G>A	ENSP00000377199.2:p.Gly594Arg
ENST00000544807.6:c.1690G>A	ENSP00000437513.2:p.Gly564Arg
ENST00000555000.5:c.1225G>A	ENSP00000450472.1:p.Gly409Arg
ENST00000555179.1:c.394G>A
XM_011536618.1:c.1690G>A	XP_011534920.1:p.Gly564Arg
XM_011536618.2:c.1690G>A	XP_011534920.1:p.Gly564Arg