Canonical Allele Identifier: CA220408

Gene: GALC

Linked Data

• ClinVar Variation Id: 92503
• ClinVar RCV Id: RCV001796583
• dbSNP Id: rs147313927
• ExAC: 14:88452941 T / C
• gnomAD v2: 14-88452941-T-C
• gnomAD v3: 14-87986597-T-C
• gnomAD v4: 14-87986597-T-C
• MyVariant Identifiers: chr14:g.88452941T>C (hg19) ; chr14:g.87986597T>C (hg38)
• PubMed: PMID:8687180 ; PMID:23197103 ; PMID:23509109 ; PMID:23891399 ; PMID:26795590 ; PMID:26915362 ; PMID:27638593

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986597T>C , CM000676.2:g.87986597T>C	GRCh38
NC_000014.8:g.88452941T>C , CM000676.1:g.88452941T>C	GRCh37
NC_000014.7:g.87522694T>C	NCBI36
NG_011853.2:g.11967A>G
NG_011853.3:g.11967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.334A>G MANE Select	ENSP00000261304.2:p.Thr112Ala
ENST00000261304.6:c.334A>G	ENSP00000261304.2:p.Thr112Ala
ENST00000393568.8:c.265A>G	ENSP00000377198.4:p.Thr89Ala
ENST00000393569.6:c.256A>G	ENSP00000377199.2:p.Thr86Ala
ENST00000474294.6:n.324A>G
ENST00000544807.6:c.166A>G	ENSP00000437513.2:p.Thr56Ala
ENST00000554372.5:c.*83A>G	ENSP00000451884.1:n.*83A>G
ENST00000554916.5:n.213A>G
ENST00000556261.5:n.35A>G
ENST00000556879.5:c.394A>G	ENSP00000452208.1:n.394A>G
ENST00000557316.5:c.334A>G	ENSP00000452314.1:p.Thr112Ala
ENST00000622264.4:c.324A>G
NM_000153.3:c.334A>G	NP_000144.2:p.Thr112Ala
NM_001201401.1:c.265A>G	NP_001188330.1:p.Thr89Ala
NM_001201402.1:c.256A>G	NP_001188331.1:p.Thr86Ala
XM_011536618.1:c.166A>G	XP_011534920.1:p.Thr56Ala
XM_011536618.2:c.166A>G	XP_011534920.1:p.Thr56Ala
NM_000153.4:c.334A>G MANE Select	NP_000144.2:p.Thr112Ala
NM_001201401.2:c.265A>G	NP_001188330.1:p.Thr89Ala
NM_001201402.2:c.256A>G	NP_001188331.1:p.Thr86Ala