Canonical Allele Identifier: CA1845638639
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648362T= , CM000671.2:g.34648362T= GRCh38
NC_000009.11:g.34648359T= , CM000671.1:g.34648359T= GRCh37
NC_000009.10:g.34638359T= NCBI36
NG_009029.1:g.6725T=
NG_028966.1:g.1178T=
NG_009029.2:g.6774T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*181T= ENSP00000509954.1:n.*181T=
ENST00000378842.8:c.593T= MANE Select ENSP00000368119.4:p.Ile198=
ENST00000378842.7:c.593T= ENSP00000368119.3:p.Ile198=
ENST00000450095.6:c.266T= ENSP00000401956.2:p.Ile89=
ENST00000472111.5:n.849T=
ENST00000473506.6:c.*181T= ENSP00000432839.2:n.*181T=
ENST00000473529.5:n.752T=
ENST00000485531.1:n.1187T=
ENST00000487381.5:n.978T=
ENST00000489643.6:n.368T=
ENST00000554085.5:c.*337T= ENSP00000450419.1:n.*337T=
ENST00000554139.5:n.839T=
ENST00000554550.5:c.*213T= ENSP00000451435.1:n.*213T=
ENST00000554638.5:n.1065T=
ENST00000554897.5:c.*280T= ENSP00000450942.1:n.*280T=
ENST00000554944.5:n.942T=
ENST00000555020.5:n.749T=
ENST00000555086.5:n.597T=
ENST00000555214.5:n.414T=
ENST00000556244.1:c.580T=
ENST00000556278.1:c.338T= ENSP00000451792.1:p.Ile113=
ENST00000556494.5:n.714T=
ENST00000557706.5:n.1155T=
NM_000155.3:c.593T= NP_000146.2:p.Ile198=
NM_001258332.1:c.266T= NP_001245261.1:p.Ile89=
NM_000155.4:c.593T= MANE Select NP_000146.2:p.Ile198=
NM_001258332.2:c.266T= NP_001245261.1:p.Ile89=