Canonical Allele Identifier: CA1845641221
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649463G= , CM000671.2:g.34649463G= GRCh38
NC_000009.11:g.34649460G= , CM000671.1:g.34649460G= GRCh37
NC_000009.10:g.34639460G= NCBI36
NG_009029.1:g.7826G=
NG_028966.1:g.2279G=
NG_009029.2:g.7875G=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*546G= ENSP00000509954.1:n.*546G=
ENST00000378842.8:c.958G= MANE Select ENSP00000368119.4:p.Ala320=
ENST00000378842.7:c.958G= ENSP00000368119.3:p.Ala320=
ENST00000450095.6:c.631G= ENSP00000401956.2:p.Ala211=
ENST00000488412.2:n.542G=
ENST00000489643.6:n.1366G=
ENST00000554550.5:c.*578G= ENSP00000451435.1:n.*578G=
ENST00000554638.5:n.1430G=
ENST00000555020.5:n.1747G=
ENST00000555754.1:n.406G=
ENST00000556278.1:c.432+1007G= ENSP00000451792.1:n.432+1007G=
ENST00000557706.5:n.1533G=
NM_000155.3:c.958G= NP_000146.2:p.Ala320=
NM_001258332.1:c.631G= NP_001245261.1:p.Ala211=
NM_000155.4:c.958G= MANE Select NP_000146.2:p.Ala320=
NM_001258332.2:c.631G= NP_001245261.1:p.Ala211=