Canonical Allele Identifier: CA373282357
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*262A>T ENSP00000509954.1:n.*262A>T
ENST00000378842.8:c.674A>T MANE Select ENSP00000368119.4:p.Glu225Val
ENST00000378842.7:c.674A>T ENSP00000368119.3:p.Glu225Val
ENST00000450095.6:c.347A>T ENSP00000401956.2:p.Glu116Val
ENST00000472111.5:n.930A>T
ENST00000473506.6:c.*262A>T ENSP00000432839.2:n.*262A>T
ENST00000473529.5:n.833A>T
ENST00000487381.5:n.1059A>T
ENST00000489643.6:n.449A>T
ENST00000554085.5:c.*418A>T ENSP00000450419.1:n.*418A>T
ENST00000554550.5:c.*294A>T ENSP00000451435.1:n.*294A>T
ENST00000554638.5:n.1146A>T
ENST00000555020.5:n.830A>T
ENST00000555086.5:n.678A>T
ENST00000555214.5:n.495A>T
ENST00000555754.1:n.19A>T
ENST00000556244.1:c.661A>T
ENST00000556278.1:c.419A>T ENSP00000451792.1:p.Glu140Val
ENST00000556494.5:n.795A>T
ENST00000557706.5:n.1236A>T
NM_000155.3:c.674A>T NP_000146.2:p.Glu225Val
NM_001258332.1:c.347A>T NP_001245261.1:p.Glu116Val
NM_000155.4:c.674A>T MANE Select NP_000146.2:p.Glu225Val
NM_001258332.2:c.347A>T NP_001245261.1:p.Glu116Val