Canonical Allele Identifier: CA10645176

Gene: GALC

Linked Data

• ClinVar Variation Id: 314743
• ClinVar RCV Id: RCV000349310
• dbSNP Id: rs756141815
• MyVariant Identifiers: chr14:g.88401081G>T (hg19) ; chr14:g.87934737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934737G>T , CM000676.2:g.87934737G>T	GRCh38
NC_000014.8:g.88401081G>T , CM000676.1:g.88401081G>T	GRCh37
NC_000014.7:g.87470834G>T	NCBI36
NG_011853.2:g.63827C>A
NG_011853.3:g.63827C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.2053C>A MANE Select	ENSP00000261304.2:p.Arg685Ser
ENST00000261304.6:c.2053C>A	ENSP00000261304.2:p.Arg685Ser
ENST00000393568.8:c.1984C>A	ENSP00000377198.4:p.Arg662Ser
ENST00000393569.6:c.1975C>A	ENSP00000377199.2:p.Arg659Ser
ENST00000544807.6:c.1744-738C>A	ENSP00000437513.2:n.1744-738C>A
ENST00000555000.5:c.1279-738C>A	ENSP00000450472.1:n.1279-738C>A
NM_000153.3:c.2053C>A	NP_000144.2:p.Arg685Ser
NM_001201401.1:c.1984C>A	NP_001188330.1:p.Arg662Ser
NM_001201402.1:c.1975C>A	NP_001188331.1:p.Arg659Ser
XM_011536618.1:c.1885C>A	XP_011534920.1:p.Arg629Ser
XM_011536618.2:c.1885C>A	XP_011534920.1:p.Arg629Ser
NM_000153.4:c.2053C>A MANE Select	NP_000144.2:p.Arg685Ser
NM_001201401.2:c.1984C>A	NP_001188330.1:p.Arg662Ser
NM_001201402.2:c.1975C>A	NP_001188331.1:p.Arg659Ser