Canonical Allele Identifier: CA373282355
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648443A>G , CM000671.2:g.34648443A>G GRCh38
NC_000009.11:g.34648440A>G , CM000671.1:g.34648440A>G GRCh37
NC_000009.10:g.34638440A>G NCBI36
NG_009029.1:g.6806A>G
NG_028966.1:g.1259A>G
NG_009029.2:g.6855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*262A>G ENSP00000509954.1:n.*262A>G
ENST00000378842.8:c.674A>G MANE Select ENSP00000368119.4:p.Glu225Gly
ENST00000378842.7:c.674A>G ENSP00000368119.3:p.Glu225Gly
ENST00000450095.6:c.347A>G ENSP00000401956.2:p.Glu116Gly
ENST00000472111.5:n.930A>G
ENST00000473506.6:c.*262A>G ENSP00000432839.2:n.*262A>G
ENST00000473529.5:n.833A>G
ENST00000487381.5:n.1059A>G
ENST00000489643.6:n.449A>G
ENST00000554085.5:c.*418A>G ENSP00000450419.1:n.*418A>G
ENST00000554550.5:c.*294A>G ENSP00000451435.1:n.*294A>G
ENST00000554638.5:n.1146A>G
ENST00000555020.5:n.830A>G
ENST00000555086.5:n.678A>G
ENST00000555214.5:n.495A>G
ENST00000555754.1:n.19A>G
ENST00000556244.1:c.661A>G
ENST00000556278.1:c.419A>G ENSP00000451792.1:p.Glu140Gly
ENST00000556494.5:n.795A>G
ENST00000557706.5:n.1236A>G
NM_000155.3:c.674A>G NP_000146.2:p.Glu225Gly
NM_001258332.1:c.347A>G NP_001245261.1:p.Glu116Gly
NM_000155.4:c.674A>G MANE Select NP_000146.2:p.Glu225Gly
NM_001258332.2:c.347A>G NP_001245261.1:p.Glu116Gly