Canonical Allele Identifier: CA1845638593
Gene: GALT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*170C= ENSP00000509954.1:n.*170C=
ENST00000378842.8:c.582C= MANE Select ENSP00000368119.4:p.Phe194=
ENST00000378842.7:c.582C= ENSP00000368119.3:p.Phe194=
ENST00000450095.6:c.255C= ENSP00000401956.2:p.Phe85=
ENST00000472111.5:n.838C=
ENST00000473506.6:c.*170C= ENSP00000432839.2:n.*170C=
ENST00000473529.5:n.741C=
ENST00000485531.1:n.1176C=
ENST00000487381.5:n.967C=
ENST00000489643.6:n.357C=
ENST00000554085.5:c.*326C= ENSP00000450419.1:n.*326C=
ENST00000554139.5:n.828C=
ENST00000554550.5:c.*202C= ENSP00000451435.1:n.*202C=
ENST00000554638.5:n.1054C=
ENST00000554897.5:c.*269C= ENSP00000450942.1:n.*269C=
ENST00000554944.5:n.931C=
ENST00000555020.5:n.738C=
ENST00000555086.5:n.586C=
ENST00000555214.5:n.403C=
ENST00000556244.1:c.569C=
ENST00000556278.1:c.327C= ENSP00000451792.1:p.Phe109=
ENST00000556494.5:n.703C=
ENST00000557706.5:n.1144C=
NM_000155.3:c.582C= NP_000146.2:p.Phe194=
NM_001258332.1:c.255C= NP_001245261.1:p.Phe85=
NM_000155.4:c.582C= MANE Select NP_000146.2:p.Phe194=
NM_001258332.2:c.255C= NP_001245261.1:p.Phe85=