Canonical Allele Identifier: CA312566

Gene: GALT

Linked Data

• ClinVar Variation Id: 3614
• ClinVar RCV Id: RCV000003798 ; RCV000185917 ; RCV000825563 ; RCV003415643 ; RCV004018548
• dbSNP Id: rs75391579
• ExAC: 9:34648167 A / G
• gnomAD v2: 9-34648167-A-G
• gnomAD v3: 9-34648170-A-G
• gnomAD v4: 9-34648170-A-G
• MyVariant Identifiers: chr9:g.34648167A>G (hg19) ; chr9:g.34648170A>G (hg38)
• PubMed: PMID:1610789 ; PMID:1897530 ; PMID:7550229 ; PMID:8198125 ; PMID:8943248 ; PMID:16838075 ; PMID:20301691

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648170A>G , CM000671.2:g.34648170A>G	GRCh38
NC_000009.11:g.34648167A>G , CM000671.1:g.34648167A>G	GRCh37
NC_000009.10:g.34638167A>G	NCBI36
NG_009029.1:g.6533A>G
NG_028966.1:g.986A>G
NG_009029.2:g.6582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*151A>G	ENSP00000509954.1:n.*151A>G
ENST00000378842.8:c.563A>G MANE Select	ENSP00000368119.4:p.Gln188Arg
ENST00000378842.7:c.563A>G	ENSP00000368119.3:p.Gln188Arg
ENST00000450095.6:c.236A>G	ENSP00000401956.2:p.Gln79Arg
ENST00000465543.6:n.902A>G
ENST00000472111.5:n.819A>G
ENST00000473506.6:c.*151A>G	ENSP00000432839.2:n.*151A>G
ENST00000473529.5:n.722A>G
ENST00000485531.1:n.1157A>G
ENST00000487381.5:n.948A>G
ENST00000489643.6:n.338A>G
ENST00000554085.5:c.*307A>G	ENSP00000450419.1:n.*307A>G
ENST00000554139.5:n.809A>G
ENST00000554550.5:c.*183A>G	ENSP00000451435.1:n.*183A>G
ENST00000554638.5:n.1035A>G
ENST00000554897.5:c.*250A>G	ENSP00000450942.1:n.*250A>G
ENST00000554944.5:n.912A>G
ENST00000555020.5:n.719A>G
ENST00000555086.5:n.567A>G
ENST00000555214.5:n.384A>G
ENST00000556244.1:c.550A>G
ENST00000556278.1:c.308A>G	ENSP00000451792.1:p.Gln103Arg
ENST00000556494.5:n.684A>G
ENST00000557706.5:n.1125A>G
NM_000155.3:c.563A>G	NP_000146.2:p.Gln188Arg
NM_001258332.1:c.236A>G	NP_001245261.1:p.Gln79Arg
NM_000155.4:c.563A>G MANE Select	NP_000146.2:p.Gln188Arg
NM_001258332.2:c.236A>G	NP_001245261.1:p.Gln79Arg