Canonical Allele Identifier: CA373281903
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648351C>G , CM000671.2:g.34648351C>G GRCh38
NC_000009.11:g.34648348C>G , CM000671.1:g.34648348C>G GRCh37
NC_000009.10:g.34638348C>G NCBI36
NG_009029.1:g.6714C>G
NG_028966.1:g.1167C>G
NG_009029.2:g.6763C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*170C>G ENSP00000509954.1:n.*170C>G
ENST00000378842.8:c.582C>G MANE Select ENSP00000368119.4:p.Phe194Leu
ENST00000378842.7:c.582C>G ENSP00000368119.3:p.Phe194Leu
ENST00000450095.6:c.255C>G ENSP00000401956.2:p.Phe85Leu
ENST00000472111.5:n.838C>G
ENST00000473506.6:c.*170C>G ENSP00000432839.2:n.*170C>G
ENST00000473529.5:n.741C>G
ENST00000485531.1:n.1176C>G
ENST00000487381.5:n.967C>G
ENST00000489643.6:n.357C>G
ENST00000554085.5:c.*326C>G ENSP00000450419.1:n.*326C>G
ENST00000554139.5:n.828C>G
ENST00000554550.5:c.*202C>G ENSP00000451435.1:n.*202C>G
ENST00000554638.5:n.1054C>G
ENST00000554897.5:c.*269C>G ENSP00000450942.1:n.*269C>G
ENST00000554944.5:n.931C>G
ENST00000555020.5:n.738C>G
ENST00000555086.5:n.586C>G
ENST00000555214.5:n.403C>G
ENST00000556244.1:c.569C>G
ENST00000556278.1:c.327C>G ENSP00000451792.1:p.Phe109Leu
ENST00000556494.5:n.703C>G
ENST00000557706.5:n.1144C>G
NM_000155.3:c.582C>G NP_000146.2:p.Phe194Leu
NM_001258332.1:c.255C>G NP_001245261.1:p.Phe85Leu
NM_000155.4:c.582C>G MANE Select NP_000146.2:p.Phe194Leu
NM_001258332.2:c.255C>G NP_001245261.1:p.Phe85Leu