Canonical Allele Identifier: CA390747710

Gene: GALC

Linked Data

• ClinVar Variation Id: 1685323
• ClinVar RCV Id: RCV002249050 ; RCV002252778
• dbSNP Id: rs1566993126
• gnomAD v4: 14-87968347-C-T
• MyVariant Identifiers: chr14:g.88434691C>T (hg19) ; chr14:g.87968347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968347C>T , CM000676.2:g.87968347C>T	GRCh38
NC_000014.8:g.88434691C>T , CM000676.1:g.88434691C>T	GRCh37
NC_000014.7:g.87504444C>T	NCBI36
NG_011853.2:g.30217G>A
NG_011853.3:g.30217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.896G>A MANE Select	ENSP00000261304.2:p.Gly299Asp
ENST00000261304.6:c.896G>A	ENSP00000261304.2:p.Gly299Asp
ENST00000393568.8:c.827G>A	ENSP00000377198.4:p.Gly276Asp
ENST00000393569.6:c.818G>A	ENSP00000377199.2:p.Gly273Asp
ENST00000474294.6:n.886G>A
ENST00000544807.6:c.728G>A	ENSP00000437513.2:p.Gly243Asp
ENST00000555000.5:c.263G>A	ENSP00000450472.1:p.Gly88Asp
ENST00000557316.5:c.*294G>A	ENSP00000452314.1:n.*294G>A
ENST00000622264.4:c.886G>A
NM_000153.3:c.896G>A	NP_000144.2:p.Gly299Asp
NM_001201401.1:c.827G>A	NP_001188330.1:p.Gly276Asp
NM_001201402.1:c.818G>A	NP_001188331.1:p.Gly273Asp
XM_011536618.1:c.728G>A	XP_011534920.1:p.Gly243Asp
XM_011536618.2:c.728G>A	XP_011534920.1:p.Gly243Asp
NM_000153.4:c.896G>A MANE Select	NP_000144.2:p.Gly299Asp
NM_001201401.2:c.827G>A	NP_001188330.1:p.Gly276Asp
NM_001201402.2:c.818G>A	NP_001188331.1:p.Gly273Asp