Canonical Allele Identifier: CA264708332

Gene: GALC

Linked Data

• ClinVar Variation Id: 2165892
• ClinVar RCV Id: RCV003084604
• dbSNP Id: rs573698381
• MyVariant Identifiers: chr14:g.88442761C>G (hg19) ; chr14:g.87976417C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976417C>G , CM000676.2:g.87976417C>G	GRCh38
NC_000014.8:g.88442761C>G , CM000676.1:g.88442761C>G	GRCh37
NC_000014.7:g.87512514C>G	NCBI36
NG_011853.2:g.22147G>C
NG_011853.3:g.22147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.693G>C MANE Select	ENSP00000261304.2:p.Glu231Asp
ENST00000261304.6:c.693G>C	ENSP00000261304.2:p.Glu231Asp
ENST00000393568.8:c.624G>C	ENSP00000377198.4:p.Glu208Asp
ENST00000393569.6:c.615G>C	ENSP00000377199.2:p.Glu205Asp
ENST00000474294.6:n.683G>C
ENST00000477716.3:n.448G>C
ENST00000544807.6:c.525G>C	ENSP00000437513.2:p.Glu175Asp
ENST00000554916.5:n.572G>C
ENST00000555000.5:c.60G>C	ENSP00000450472.1:p.Glu20Asp
ENST00000557316.5:c.*91G>C	ENSP00000452314.1:n.*91G>C
ENST00000622264.4:c.683G>C
NM_000153.3:c.693G>C	NP_000144.2:p.Glu231Asp
NM_001201401.1:c.624G>C	NP_001188330.1:p.Glu208Asp
NM_001201402.1:c.615G>C	NP_001188331.1:p.Glu205Asp
XM_011536618.1:c.525G>C	XP_011534920.1:p.Glu175Asp
XM_011536618.2:c.525G>C	XP_011534920.1:p.Glu175Asp
NM_000153.4:c.693G>C MANE Select	NP_000144.2:p.Glu231Asp
NM_001201401.2:c.624G>C	NP_001188330.1:p.Glu208Asp
NM_001201402.2:c.615G>C	NP_001188331.1:p.Glu205Asp