Canonical Allele Identifier: CA259424

Gene: GALT

Linked Data

• ClinVar Variation Id: 25203
• ClinVar RCV Id: RCV000022139 ; RCV000507314 ; RCV001276270
• dbSNP Id: rs111033718
• gnomAD v4: 9-34648131-G-A
• MyVariant Identifiers: chr9:g.34648128G>A (hg19) ; chr9:g.34648131G>A (hg38)
• PubMed: PMID:17041746 ; PMID:17486650 ; PMID:22944367 ; PMID:23749220 ; PMID:25614870 ; PMID:25814382

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648131G>A , CM000671.2:g.34648131G>A	GRCh38
NC_000009.11:g.34648128G>A , CM000671.1:g.34648128G>A	GRCh37
NC_000009.10:g.34638128G>A	NCBI36
NG_009029.1:g.6494G>A
NG_028966.1:g.947G>A
NG_009029.2:g.6543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*112G>A	ENSP00000509954.1:n.*112G>A
ENST00000378842.8:c.524G>A MANE Select	ENSP00000368119.4:p.Gly175Asp
ENST00000378842.7:c.524G>A	ENSP00000368119.3:p.Gly175Asp
ENST00000450095.6:c.197G>A	ENSP00000401956.2:p.Gly66Asp
ENST00000465543.6:n.863G>A
ENST00000472111.5:n.780G>A
ENST00000473506.6:c.*112G>A	ENSP00000432839.2:n.*112G>A
ENST00000473529.5:n.683G>A
ENST00000485531.1:n.1118G>A
ENST00000487381.5:n.909G>A
ENST00000489643.6:n.299G>A
ENST00000554085.5:c.*268G>A	ENSP00000450419.1:n.*268G>A
ENST00000554139.5:n.770G>A
ENST00000554550.5:c.*144G>A	ENSP00000451435.1:n.*144G>A
ENST00000554638.5:n.996G>A
ENST00000554897.5:c.*211G>A	ENSP00000450942.1:n.*211G>A
ENST00000554944.5:n.873G>A
ENST00000555020.5:n.680G>A
ENST00000555086.5:n.528G>A
ENST00000555214.5:n.345G>A
ENST00000556244.1:c.511G>A
ENST00000556278.1:c.269G>A	ENSP00000451792.1:p.Gly90Asp
ENST00000556494.5:n.645G>A
ENST00000557706.5:n.1086G>A
NM_000155.3:c.524G>A	NP_000146.2:p.Gly175Asp
NM_001258332.1:c.197G>A	NP_001245261.1:p.Gly66Asp
NM_000155.4:c.524G>A MANE Select	NP_000146.2:p.Gly175Asp
NM_001258332.2:c.197G>A	NP_001245261.1:p.Gly66Asp