Canonical Allele Identifier: CA373278321
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646756G>C , CM000671.2:g.34646756G>C GRCh38
NC_000009.11:g.34646753G>C , CM000671.1:g.34646753G>C GRCh37
NC_000009.10:g.34636753G>C NCBI36
NG_009029.1:g.5119G>C
NG_009029.2:g.5168G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.52G>C ENSP00000509954.1:p.Asp18His
ENST00000378842.8:c.52G>C MANE Select ENSP00000368119.4:p.Asp18His
ENST00000378842.7:c.52G>C ENSP00000368119.3:p.Asp18His
ENST00000450095.6:c.-151G>C ENSP00000401956.2:n.-151G>C
ENST00000465543.6:n.89G>C
ENST00000468099.2:n.124G>C
ENST00000472111.5:n.93G>C
ENST00000473506.6:c.52G>C ENSP00000432839.2:p.Asp18His
ENST00000473529.5:n.99G>C
ENST00000487381.5:n.78G>C
ENST00000489643.6:n.82G>C
ENST00000554085.5:c.52G>C ENSP00000450419.1:p.Asp18His
ENST00000554139.5:n.105G>C
ENST00000554550.5:c.52G>C ENSP00000451435.1:p.Asp18His
ENST00000554638.5:n.76G>C
ENST00000554897.5:c.52G>C ENSP00000450942.1:p.Asp18His
ENST00000554944.5:n.82G>C
ENST00000555020.5:n.82G>C
ENST00000555214.5:n.61G>C
ENST00000556278.1:c.52G>C ENSP00000451792.1:p.Asp18His
ENST00000557541.5:n.112G>C
ENST00000605275.1:n.288G>C
NM_000155.3:c.52G>C NP_000146.2:p.Asp18His
NM_001258332.1:c.-151G>C NP_001245261.1:n.-151G>C
NM_000155.4:c.52G>C MANE Select NP_000146.2:p.Asp18His
NM_001258332.2:c.-151G>C NP_001245261.1:n.-151G>C