Canonical Allele Identifier: CA373282227
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648421C>A , CM000671.2:g.34648421C>A GRCh38
NC_000009.11:g.34648418C>A , CM000671.1:g.34648418C>A GRCh37
NC_000009.10:g.34638418C>A NCBI36
NG_009029.1:g.6784C>A
NG_028966.1:g.1237C>A
NG_009029.2:g.6833C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*240C>A ENSP00000509954.1:n.*240C>A
ENST00000378842.8:c.652C>A MANE Select ENSP00000368119.4:p.Leu218Ile
ENST00000378842.7:c.652C>A ENSP00000368119.3:p.Leu218Ile
ENST00000450095.6:c.325C>A ENSP00000401956.2:p.Leu109Ile
ENST00000472111.5:n.908C>A
ENST00000473506.6:c.*240C>A ENSP00000432839.2:n.*240C>A
ENST00000473529.5:n.811C>A
ENST00000487381.5:n.1037C>A
ENST00000489643.6:n.427C>A
ENST00000554085.5:c.*396C>A ENSP00000450419.1:n.*396C>A
ENST00000554550.5:c.*272C>A ENSP00000451435.1:n.*272C>A
ENST00000554638.5:n.1124C>A
ENST00000555020.5:n.808C>A
ENST00000555086.5:n.656C>A
ENST00000555214.5:n.473C>A
ENST00000556244.1:c.639C>A
ENST00000556278.1:c.397C>A ENSP00000451792.1:p.Leu133Ile
ENST00000556494.5:n.773C>A
ENST00000557706.5:n.1214C>A
NM_000155.3:c.652C>A NP_000146.2:p.Leu218Ile
NM_001258332.1:c.325C>A NP_001245261.1:p.Leu109Ile
NM_000155.4:c.652C>A MANE Select NP_000146.2:p.Leu218Ile
NM_001258332.2:c.325C>A NP_001245261.1:p.Leu109Ile