Canonical Allele Identifier: CA373285242
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649542A>G , CM000671.2:g.34649542A>G GRCh38
NC_000009.11:g.34649539A>G , CM000671.1:g.34649539A>G GRCh37
NC_000009.10:g.34639539A>G NCBI36
NG_009029.1:g.7905A>G
NG_028966.1:g.2358A>G
NG_009029.2:g.7954A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*625A>G ENSP00000509954.1:n.*625A>G
ENST00000378842.8:c.1037A>G MANE Select ENSP00000368119.4:p.Gln346Arg
ENST00000378842.7:c.1037A>G ENSP00000368119.3:p.Gln346Arg
ENST00000450095.6:c.710A>G ENSP00000401956.2:p.Gln237Arg
ENST00000488412.2:n.621A>G
ENST00000489643.6:n.1445A>G
ENST00000554550.5:c.*657A>G ENSP00000451435.1:n.*657A>G
ENST00000554638.5:n.1509A>G
ENST00000555020.5:n.1826A>G
ENST00000555754.1:n.485A>G
ENST00000556278.1:c.432+1086A>G ENSP00000451792.1:n.432+1086A>G
ENST00000557706.5:n.1612A>G
NM_000155.3:c.1037A>G NP_000146.2:p.Gln346Arg
NM_001258332.1:c.710A>G NP_001245261.1:p.Gln237Arg
NM_000155.4:c.1037A>G MANE Select NP_000146.2:p.Gln346Arg
NM_001258332.2:c.710A>G NP_001245261.1:p.Gln237Arg