Canonical Allele Identifier: CA373281510
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648139A>G , CM000671.2:g.34648139A>G GRCh38
NC_000009.11:g.34648136A>G , CM000671.1:g.34648136A>G GRCh37
NC_000009.10:g.34638136A>G NCBI36
NG_009029.1:g.6502A>G
NG_028966.1:g.955A>G
NG_009029.2:g.6551A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*120A>G ENSP00000509954.1:n.*120A>G
ENST00000378842.8:c.532A>G MANE Select ENSP00000368119.4:p.Met178Val
ENST00000378842.7:c.532A>G ENSP00000368119.3:p.Met178Val
ENST00000450095.6:c.205A>G ENSP00000401956.2:p.Met69Val
ENST00000465543.6:n.871A>G
ENST00000472111.5:n.788A>G
ENST00000473506.6:c.*120A>G ENSP00000432839.2:n.*120A>G
ENST00000473529.5:n.691A>G
ENST00000485531.1:n.1126A>G
ENST00000487381.5:n.917A>G
ENST00000489643.6:n.307A>G
ENST00000554085.5:c.*276A>G ENSP00000450419.1:n.*276A>G
ENST00000554139.5:n.778A>G
ENST00000554550.5:c.*152A>G ENSP00000451435.1:n.*152A>G
ENST00000554638.5:n.1004A>G
ENST00000554897.5:c.*219A>G ENSP00000450942.1:n.*219A>G
ENST00000554944.5:n.881A>G
ENST00000555020.5:n.688A>G
ENST00000555086.5:n.536A>G
ENST00000555214.5:n.353A>G
ENST00000556244.1:c.519A>G
ENST00000556278.1:c.277A>G ENSP00000451792.1:p.Met93Val
ENST00000556494.5:n.653A>G
ENST00000557706.5:n.1094A>G
NM_000155.3:c.532A>G NP_000146.2:p.Met178Val
NM_001258332.1:c.205A>G NP_001245261.1:p.Met69Val
NM_000155.4:c.532A>G MANE Select NP_000146.2:p.Met178Val
NM_001258332.2:c.205A>G NP_001245261.1:p.Met69Val