Canonical Allele Identifier: CA259396

Gene: GALT

Linked Data

• ClinVar Variation Id: 25180
• ClinVar RCV Id: RCV000022116 ; RCV000505985 ; RCV001826493
• dbSNP Id: rs111033701
• MyVariant Identifiers: chr9:g.34647903T>C (hg19) ; chr9:g.34647906T>C (hg38)
• PubMed: PMID:7887416

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647906T>C , CM000671.2:g.34647906T>C	GRCh38
NC_000009.11:g.34647903T>C , CM000671.1:g.34647903T>C	GRCh37
NC_000009.10:g.34637903T>C	NCBI36
NG_009029.1:g.6269T>C
NG_028966.1:g.722T>C
NG_009029.2:g.6318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*40T>C	ENSP00000509954.1:n.*40T>C
ENST00000378842.8:c.452T>C MANE Select	ENSP00000368119.4:p.Val151Ala
ENST00000378842.7:c.452T>C	ENSP00000368119.3:p.Val151Ala
ENST00000450095.6:c.125T>C	ENSP00000401956.2:p.Val42Ala
ENST00000465543.6:n.791T>C
ENST00000472111.5:n.708T>C
ENST00000473506.6:c.*40T>C	ENSP00000432839.2:n.*40T>C
ENST00000473529.5:n.588T>C
ENST00000485531.1:n.893T>C
ENST00000487381.5:n.837T>C
ENST00000489643.6:n.283-209T>C
ENST00000554085.5:c.*196T>C	ENSP00000450419.1:n.*196T>C
ENST00000554139.5:n.631T>C
ENST00000554550.5:c.*72T>C	ENSP00000451435.1:n.*72T>C
ENST00000554638.5:n.924T>C
ENST00000554897.5:c.*72T>C	ENSP00000450942.1:n.*72T>C
ENST00000554944.5:n.648T>C
ENST00000555020.5:n.608T>C
ENST00000555086.5:n.456T>C
ENST00000555214.5:n.262-142T>C
ENST00000556244.1:c.439T>C
ENST00000556278.1:c.253-209T>C	ENSP00000451792.1:n.253-209T>C
ENST00000556494.5:n.573T>C
ENST00000557706.5:n.1014T>C
NM_000155.3:c.452T>C	NP_000146.2:p.Val151Ala
NM_001258332.1:c.125T>C	NP_001245261.1:p.Val42Ala
NM_000155.4:c.452T>C MANE Select	NP_000146.2:p.Val151Ala
NM_001258332.2:c.125T>C	NP_001245261.1:p.Val42Ala