Canonical Allele Identifier: CA252848
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 3619
ClinVar RCV Id: RCV000003803
dbSNP Id: rs111033721

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648154C>A , CM000671.2:g.34648154C>A GRCh38
NC_000009.11:g.34648151C>A , CM000671.1:g.34648151C>A GRCh37
NC_000009.10:g.34638151C>A NCBI36
NG_009029.1:g.6517C>A
NG_028966.1:g.970C>A
NG_009029.2:g.6566C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*135C>A ENSP00000509954.1:n.*135C>A
ENST00000378842.8:c.547C>A MANE Select ENSP00000368119.4:p.Pro183Thr
ENST00000378842.7:c.547C>A ENSP00000368119.3:p.Pro183Thr
ENST00000450095.6:c.220C>A ENSP00000401956.2:p.Pro74Thr
ENST00000465543.6:n.886C>A
ENST00000472111.5:n.803C>A
ENST00000473506.6:c.*135C>A ENSP00000432839.2:n.*135C>A
ENST00000473529.5:n.706C>A
ENST00000485531.1:n.1141C>A
ENST00000487381.5:n.932C>A
ENST00000489643.6:n.322C>A
ENST00000554085.5:c.*291C>A ENSP00000450419.1:n.*291C>A
ENST00000554139.5:n.793C>A
ENST00000554550.5:c.*167C>A ENSP00000451435.1:n.*167C>A
ENST00000554638.5:n.1019C>A
ENST00000554897.5:c.*234C>A ENSP00000450942.1:n.*234C>A
ENST00000554944.5:n.896C>A
ENST00000555020.5:n.703C>A
ENST00000555086.5:n.551C>A
ENST00000555214.5:n.368C>A
ENST00000556244.1:c.534C>A
ENST00000556278.1:c.292C>A ENSP00000451792.1:p.Pro98Thr
ENST00000556494.5:n.668C>A
ENST00000557706.5:n.1109C>A
NM_000155.3:c.547C>A NP_000146.2:p.Pro183Thr
NM_001258332.1:c.220C>A NP_001245261.1:p.Pro74Thr
NM_000155.4:c.547C>A MANE Select NP_000146.2:p.Pro183Thr
NM_001258332.2:c.220C>A NP_001245261.1:p.Pro74Thr