Canonical Allele Identifier: CA7297219

Gene: GALC

Linked Data

• ClinVar Variation Id: 280957
• ClinVar RCV Id: RCV000285229 ; RCV000522818
• dbSNP Id: rs756352952
• ExAC: 14:88434679 G / A
• gnomAD v2: 14-88434679-G-A
• gnomAD v3: 14-87968335-G-A
• gnomAD v4: 14-87968335-G-A
• COSMIC: COSM5729847 ; COSM5729848
• MyVariant Identifiers: chr14:g.88434679G>A (hg19) ; chr14:g.87968335G>A (hg38)
• PubMed: PMID:9338580 ; PMID:10448809 ; PMID:11151421 ; PMID:20886637 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968335G>A , CM000676.2:g.87968335G>A	GRCh38
NC_000014.8:g.88434679G>A , CM000676.1:g.88434679G>A	GRCh37
NC_000014.7:g.87504432G>A	NCBI36
NG_011853.2:g.30229C>T
NG_011853.3:g.30229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908C>T MANE Select	ENSP00000261304.2:p.Ser303Phe
ENST00000261304.6:c.908C>T	ENSP00000261304.2:p.Ser303Phe
ENST00000393568.8:c.839C>T	ENSP00000377198.4:p.Ser280Phe
ENST00000393569.6:c.830C>T	ENSP00000377199.2:p.Ser277Phe
ENST00000474294.6:n.898C>T
ENST00000544807.6:c.740C>T	ENSP00000437513.2:p.Ser247Phe
ENST00000555000.5:c.275C>T	ENSP00000450472.1:p.Ser92Phe
ENST00000557316.5:c.*306C>T	ENSP00000452314.1:n.*306C>T
ENST00000622264.4:c.898C>T
NM_000153.3:c.908C>T	NP_000144.2:p.Ser303Phe
NM_001201401.1:c.839C>T	NP_001188330.1:p.Ser280Phe
NM_001201402.1:c.830C>T	NP_001188331.1:p.Ser277Phe
XM_011536618.1:c.740C>T	XP_011534920.1:p.Ser247Phe
XM_011536618.2:c.740C>T	XP_011534920.1:p.Ser247Phe
NM_000153.4:c.908C>T MANE Select	NP_000144.2:p.Ser303Phe
NM_001201401.2:c.839C>T	NP_001188330.1:p.Ser280Phe
NM_001201402.2:c.830C>T	NP_001188331.1:p.Ser277Phe