Canonical Allele Identifier: CA259485
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25252
dbSNP Id: rs111033758
gnomAD v2: 9-34648818-G-A
gnomAD v4: 9-34648821-G-A

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