Canonical Allele Identifier: CA252847

Gene: GALT

Linked Data

• ClinVar Variation Id: 3617
• ClinVar RCV Id: RCV000003801 ; RCV000727567
• dbSNP Id: rs111033792
• ExAC: 9:34649459 C / A
• gnomAD v2: 9-34649459-C-A
• gnomAD v3: 9-34649462-C-A
• gnomAD v4: 9-34649462-C-A
• MyVariant Identifiers: chr9:g.34649459C>A (hg19) ; chr9:g.34649462C>A (hg38)
• PubMed: PMID:2233247 ; PMID:7671959 ; PMID:7887416 ; PMID:8499924 ; PMID:8956044 ; PMID:11261429 ; PMID:23022339 ; PMID:25268296 ; PMID:27005423

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649462C>A , CM000671.2:g.34649462C>A	GRCh38
NC_000009.11:g.34649459C>A , CM000671.1:g.34649459C>A	GRCh37
NC_000009.10:g.34639459C>A	NCBI36
NG_009029.1:g.7825C>A
NG_028966.1:g.2278C>A
NG_009029.2:g.7874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*545C>A	ENSP00000509954.1:n.*545C>A
ENST00000378842.8:c.957C>A MANE Select	ENSP00000368119.4:p.His319Gln
ENST00000378842.7:c.957C>A	ENSP00000368119.3:p.His319Gln
ENST00000450095.6:c.630C>A	ENSP00000401956.2:p.His210Gln
ENST00000488412.2:n.541C>A
ENST00000489643.6:n.1365C>A
ENST00000554550.5:c.*577C>A	ENSP00000451435.1:n.*577C>A
ENST00000554638.5:n.1429C>A
ENST00000555020.5:n.1746C>A
ENST00000555754.1:n.405C>A
ENST00000556278.1:c.432+1006C>A	ENSP00000451792.1:n.432+1006C>A
ENST00000557706.5:n.1532C>A
NM_000155.3:c.957C>A	NP_000146.2:p.His319Gln
NM_001258332.1:c.630C>A	NP_001245261.1:p.His210Gln
NM_000155.4:c.957C>A MANE Select	NP_000146.2:p.His319Gln
NM_001258332.2:c.630C>A	NP_001245261.1:p.His210Gln