Canonical Allele Identifier: CA5036123

Gene: GALT

Linked Data

• ClinVar Variation Id: 721936
• ClinVar RCV Id: RCV000895512 ; RCV001276329
• dbSNP Id: rs116479817
• ExAC: 9:34647865 G / A
• gnomAD v2: 9-34647865-G-A
• gnomAD v3: 9-34647868-G-A
• gnomAD v4: 9-34647868-G-A
• MyVariant Identifiers: chr9:g.34647865G>A (hg19) ; chr9:g.34647868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647868G>A , CM000671.2:g.34647868G>A	GRCh38
NC_000009.11:g.34647865G>A , CM000671.1:g.34647865G>A	GRCh37
NC_000009.10:g.34637865G>A	NCBI36
NG_009029.1:g.6231G>A
NG_028966.1:g.684G>A
NG_009029.2:g.6280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*2G>A	ENSP00000509954.1:n.*2G>A
ENST00000378842.8:c.414G>A MANE Select	ENSP00000368119.4:p.Thr138=
ENST00000378842.7:c.414G>A	ENSP00000368119.3:p.Thr138=
ENST00000450095.6:c.87G>A	ENSP00000401956.2:p.Thr29=
ENST00000465543.6:n.753G>A
ENST00000472111.5:n.670G>A
ENST00000473506.6:c.*2G>A	ENSP00000432839.2:n.*2G>A
ENST00000473529.5:n.550G>A
ENST00000485531.1:n.855G>A
ENST00000487381.5:n.799G>A
ENST00000489643.6:n.283-247G>A
ENST00000554085.5:c.*158G>A	ENSP00000450419.1:n.*158G>A
ENST00000554139.5:n.593G>A
ENST00000554550.5:c.*34G>A	ENSP00000451435.1:n.*34G>A
ENST00000554638.5:n.886G>A
ENST00000554897.5:c.*34G>A	ENSP00000450942.1:n.*34G>A
ENST00000554944.5:n.610G>A
ENST00000555020.5:n.570G>A
ENST00000555086.5:n.418G>A
ENST00000555214.5:n.262-180G>A
ENST00000556244.1:c.401G>A
ENST00000556278.1:c.253-247G>A	ENSP00000451792.1:n.253-247G>A
ENST00000556494.5:n.535G>A
ENST00000557541.5:n.558G>A
ENST00000557706.5:n.976G>A
NM_000155.3:c.414G>A	NP_000146.2:p.Thr138=
NM_001258332.1:c.87G>A	NP_001245261.1:p.Thr29=
NM_000155.4:c.414G>A MANE Select	NP_000146.2:p.Thr138=
NM_001258332.2:c.87G>A	NP_001245261.1:p.Thr29=