Canonical Allele Identifier: CA373278738
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647212-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647212A>G , CM000671.2:g.34647212A>G GRCh38
NC_000009.11:g.34647209A>G , CM000671.1:g.34647209A>G GRCh37
NC_000009.10:g.34637209A>G NCBI36
NG_009029.1:g.5575A>G
NG_028966.1:g.28A>G
NG_009029.2:g.5624A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.206A>G ENSP00000509954.1:p.Asp69Gly
ENST00000378842.8:c.206A>G MANE Select ENSP00000368119.4:p.Asp69Gly
ENST00000378842.7:c.206A>G ENSP00000368119.3:p.Asp69Gly
ENST00000450095.6:c.4A>G ENSP00000401956.2:p.Thr2Ala
ENST00000465543.6:n.545A>G
ENST00000468099.2:n.246A>G
ENST00000472111.5:n.247A>G
ENST00000473506.6:c.206A>G ENSP00000432839.2:p.Asp69Gly
ENST00000473529.5:n.253A>G
ENST00000485531.1:n.199A>G
ENST00000487381.5:n.232A>G
ENST00000489643.6:n.236A>G
ENST00000554085.5:c.206A>G ENSP00000450419.1:p.Asp69Gly
ENST00000554139.5:n.259A>G
ENST00000554330.5:n.203A>G
ENST00000554550.5:c.206A>G ENSP00000451435.1:p.Asp69Gly
ENST00000554638.5:n.230A>G
ENST00000554897.5:c.206A>G ENSP00000450942.1:p.Asp69Gly
ENST00000554944.5:n.236A>G
ENST00000555020.5:n.236A>G
ENST00000555086.5:n.210A>G
ENST00000555214.5:n.215A>G
ENST00000556157.1:n.313A>G
ENST00000556244.1:c.90A>G
ENST00000556278.1:c.206A>G ENSP00000451792.1:p.Asp69Gly
ENST00000556403.5:n.219A>G
ENST00000556494.5:n.238A>G
ENST00000557541.5:n.399A>G
ENST00000557706.5:n.320A>G
NM_000155.3:c.206A>G NP_000146.2:p.Asp69Gly
NM_001258332.1:c.4A>G NP_001245261.1:p.Thr2Ala
NM_000155.4:c.206A>G MANE Select NP_000146.2:p.Asp69Gly
NM_001258332.2:c.4A>G NP_001245261.1:p.Thr2Ala