Canonical Allele Identifier: CA373283411
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648780A>G , CM000671.2:g.34648780A>G GRCh38
NC_000009.11:g.34648777A>G , CM000671.1:g.34648777A>G GRCh37
NC_000009.10:g.34638777A>G NCBI36
NG_009029.1:g.7143A>G
NG_028966.1:g.1596A>G
NG_009029.2:g.7192A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*294A>G ENSP00000509954.1:n.*294A>G
ENST00000378842.8:c.706A>G MANE Select ENSP00000368119.4:p.Ser236Gly
ENST00000378842.7:c.706A>G ENSP00000368119.3:p.Ser236Gly
ENST00000450095.6:c.379A>G ENSP00000401956.2:p.Ser127Gly
ENST00000473506.6:c.*294A>G ENSP00000432839.2:n.*294A>G
ENST00000473529.5:n.865A>G
ENST00000487381.5:n.1396A>G
ENST00000489643.6:n.786A>G
ENST00000554085.5:c.*450A>G ENSP00000450419.1:n.*450A>G
ENST00000554550.5:c.*326A>G ENSP00000451435.1:n.*326A>G
ENST00000554638.5:n.1178A>G
ENST00000555020.5:n.1167A>G
ENST00000555086.5:n.710A>G
ENST00000555754.1:n.51A>G
ENST00000556244.1:c.693A>G
ENST00000556278.1:c.432+324A>G ENSP00000451792.1:n.432+324A>G
ENST00000557706.5:n.1268A>G
NM_000155.3:c.706A>G NP_000146.2:p.Ser236Gly
NM_001258332.1:c.379A>G NP_001245261.1:p.Ser127Gly
NM_000155.4:c.706A>G MANE Select NP_000146.2:p.Ser236Gly
NM_001258332.2:c.379A>G NP_001245261.1:p.Ser127Gly