Canonical Allele Identifier: CA390746624

Gene: GALC

Linked Data

• ClinVar Variation Id: 2043516
• ClinVar RCV Id: RCV002913054
• gnomAD v4: 14-87947851-G-C
• MyVariant Identifiers: chr14:g.88414195G>C (hg19) ; chr14:g.87947851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947851G>C , CM000676.2:g.87947851G>C	GRCh38
NC_000014.8:g.88414195G>C , CM000676.1:g.88414195G>C	GRCh37
NC_000014.7:g.87483948G>C	NCBI36
NG_011853.2:g.50713C>G
NG_011853.3:g.50713C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1366C>G MANE Select	ENSP00000261304.2:p.Leu456Val
ENST00000261304.6:c.1366C>G	ENSP00000261304.2:p.Leu456Val
ENST00000393568.8:c.1297C>G	ENSP00000377198.4:p.Leu433Val
ENST00000393569.6:c.1288C>G	ENSP00000377199.2:p.Leu430Val
ENST00000544807.6:c.1198C>G	ENSP00000437513.2:p.Leu400Val
ENST00000555000.5:c.733C>G	ENSP00000450472.1:p.Leu245Val
ENST00000555179.1:c.83C>G
ENST00000557316.5:c.*764C>G	ENSP00000452314.1:n.*764C>G
NM_000153.3:c.1366C>G	NP_000144.2:p.Leu456Val
NM_001201401.1:c.1297C>G	NP_001188330.1:p.Leu433Val
NM_001201402.1:c.1288C>G	NP_001188331.1:p.Leu430Val
XM_011536618.1:c.1198C>G	XP_011534920.1:p.Leu400Val
XM_011536618.2:c.1198C>G	XP_011534920.1:p.Leu400Val
NM_000153.4:c.1366C>G MANE Select	NP_000144.2:p.Leu456Val
NM_001201401.2:c.1297C>G	NP_001188330.1:p.Leu433Val
NM_001201402.2:c.1288C>G	NP_001188331.1:p.Leu430Val