Canonical Allele Identifier: CA1845636595
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647695C= , CM000671.2:g.34647695C= GRCh38
NC_000009.11:g.34647692C= , CM000671.1:g.34647692C= GRCh37
NC_000009.10:g.34637692C= NCBI36
NG_009029.1:g.6058C=
NG_028966.1:g.511C=
NG_009029.2:g.6107C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+128C= ENSP00000509954.1:n.328+128C=
ENST00000378842.8:c.367C= MANE Select ENSP00000368119.4:p.Arg123=
ENST00000378842.7:c.367C= ENSP00000368119.3:p.Arg123=
ENST00000450095.6:c.51-137C= ENSP00000401956.2:n.51-137C=
ENST00000465543.6:n.706C=
ENST00000472111.5:n.497C=
ENST00000473506.6:c.318C= ENSP00000432839.2:p.Leu106=
ENST00000473529.5:n.503C=
ENST00000485531.1:n.682C=
ENST00000487381.5:n.626C=
ENST00000489643.6:n.283-420C=
ENST00000554085.5:c.*111C= ENSP00000450419.1:n.*111C=
ENST00000554139.5:n.420C=
ENST00000554330.5:n.404C=
ENST00000554550.5:c.253-137C= ENSP00000451435.1:n.253-137C=
ENST00000554638.5:n.713C=
ENST00000554897.5:c.253-137C= ENSP00000450942.1:n.253-137C=
ENST00000554944.5:n.437C=
ENST00000555020.5:n.397C=
ENST00000555086.5:n.371C=
ENST00000555214.5:n.262-353C=
ENST00000556157.1:n.491C=
ENST00000556244.1:c.354C=
ENST00000556278.1:c.253-420C= ENSP00000451792.1:n.253-420C=
ENST00000556403.5:n.469C=
ENST00000556494.5:n.488C=
ENST00000557541.5:n.511C=
ENST00000557706.5:n.803C=
NM_000155.3:c.367C= NP_000146.2:p.Arg123=
NM_001258332.1:c.51-137C= NP_001245261.1:n.51-137C=
NM_000155.4:c.367C= MANE Select NP_000146.2:p.Arg123=
NM_001258332.2:c.51-137C= NP_001245261.1:n.51-137C=