Canonical Allele Identifier: CA259435

Gene: GALT

Linked Data

• dbSNP Id: rs111033722
• gnomAD v4: 9-34648161-C-A
• MyVariant Identifiers: chr9:g.34648158C>A (hg19) ; chr9:g.34648161C>A (hg38)
• PubMed: PMID:17876724

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648161C>A , CM000671.2:g.34648161C>A	GRCh38
NC_000009.11:g.34648158C>A , CM000671.1:g.34648158C>A	GRCh37
NC_000009.10:g.34638158C>A	NCBI36
NG_009029.1:g.6524C>A
NG_028966.1:g.977C>A
NG_009029.2:g.6573C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*142C>A	ENSP00000509954.1:n.*142C>A
ENST00000378842.8:c.554C>A MANE Select	ENSP00000368119.4:p.Pro185His
ENST00000378842.7:c.554C>A	ENSP00000368119.3:p.Pro185His
ENST00000450095.6:c.227C>A	ENSP00000401956.2:p.Pro76His
ENST00000465543.6:n.893C>A
ENST00000472111.5:n.810C>A
ENST00000473506.6:c.*142C>A	ENSP00000432839.2:n.*142C>A
ENST00000473529.5:n.713C>A
ENST00000485531.1:n.1148C>A
ENST00000487381.5:n.939C>A
ENST00000489643.6:n.329C>A
ENST00000554085.5:c.*298C>A	ENSP00000450419.1:n.*298C>A
ENST00000554139.5:n.800C>A
ENST00000554550.5:c.*174C>A	ENSP00000451435.1:n.*174C>A
ENST00000554638.5:n.1026C>A
ENST00000554897.5:c.*241C>A	ENSP00000450942.1:n.*241C>A
ENST00000554944.5:n.903C>A
ENST00000555020.5:n.710C>A
ENST00000555086.5:n.558C>A
ENST00000555214.5:n.375C>A
ENST00000556244.1:c.541C>A
ENST00000556278.1:c.299C>A	ENSP00000451792.1:p.Pro100His
ENST00000556494.5:n.675C>A
ENST00000557706.5:n.1116C>A
NM_000155.3:c.554C>A	NP_000146.2:p.Pro185His
NM_001258332.1:c.227C>A	NP_001245261.1:p.Pro76His
NM_000155.4:c.554C>A MANE Select	NP_000146.2:p.Pro185His
NM_001258332.2:c.227C>A	NP_001245261.1:p.Pro76His