Canonical Allele Identifier: CA259485

Gene: GALT

Linked Data

• ClinVar Variation Id: 25252
• ClinVar RCV Id: RCV000022190 ; RCV001271244
• dbSNP Id: rs111033758
• gnomAD v2: 9-34648818-G-A
• gnomAD v4: 9-34648821-G-A
• MyVariant Identifiers: chr9:g.34648818G>A (hg19) ; chr9:g.34648821G>A (hg38)
• PubMed: PMID:10573007

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648821G>A , CM000671.2:g.34648821G>A	GRCh38
NC_000009.11:g.34648818G>A , CM000671.1:g.34648818G>A	GRCh37
NC_000009.10:g.34638818G>A	NCBI36
NG_009029.1:g.7184G>A
NG_028966.1:g.1637G>A
NG_009029.2:g.7233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*335G>A	ENSP00000509954.1:n.*335G>A
ENST00000378842.8:c.747G>A MANE Select	ENSP00000368119.4:p.Trp249Ter
ENST00000378842.7:c.747G>A	ENSP00000368119.3:p.Trp249Ter
ENST00000450095.6:c.420G>A	ENSP00000401956.2:p.Trp140Ter
ENST00000473506.6:c.*335G>A	ENSP00000432839.2:n.*335G>A
ENST00000473529.5:n.906G>A
ENST00000487381.5:n.1437G>A
ENST00000489643.6:n.827G>A
ENST00000554085.5:c.*491G>A	ENSP00000450419.1:n.*491G>A
ENST00000554550.5:c.*367G>A	ENSP00000451435.1:n.*367G>A
ENST00000554638.5:n.1219G>A
ENST00000555020.5:n.1208G>A
ENST00000555086.5:n.751G>A
ENST00000555754.1:n.92G>A
ENST00000556244.1:c.734G>A
ENST00000556278.1:c.432+365G>A	ENSP00000451792.1:n.432+365G>A
ENST00000557706.5:n.1309G>A
NM_000155.3:c.747G>A	NP_000146.2:p.Trp249Ter
NM_001258332.1:c.420G>A	NP_001245261.1:p.Trp140Ter
NM_000155.4:c.747G>A MANE Select	NP_000146.2:p.Trp249Ter
NM_001258332.2:c.420G>A	NP_001245261.1:p.Trp140Ter