Canonical Allele Identifier: CA373282401
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648451A>G , CM000671.2:g.34648451A>G GRCh38
NC_000009.11:g.34648448A>G , CM000671.1:g.34648448A>G GRCh37
NC_000009.10:g.34638448A>G NCBI36
NG_009029.1:g.6814A>G
NG_028966.1:g.1267A>G
NG_009029.2:g.6863A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*270A>G ENSP00000509954.1:n.*270A>G
ENST00000378842.8:c.682A>G MANE Select ENSP00000368119.4:p.Arg228Gly
ENST00000378842.7:c.682A>G ENSP00000368119.3:p.Arg228Gly
ENST00000450095.6:c.355A>G ENSP00000401956.2:p.Arg119Gly
ENST00000472111.5:n.938A>G
ENST00000473506.6:c.*270A>G ENSP00000432839.2:n.*270A>G
ENST00000473529.5:n.841A>G
ENST00000487381.5:n.1067A>G
ENST00000489643.6:n.457A>G
ENST00000554085.5:c.*426A>G ENSP00000450419.1:n.*426A>G
ENST00000554550.5:c.*302A>G ENSP00000451435.1:n.*302A>G
ENST00000554638.5:n.1154A>G
ENST00000555020.5:n.838A>G
ENST00000555086.5:n.686A>G
ENST00000555214.5:n.503A>G
ENST00000555754.1:n.27A>G
ENST00000556244.1:c.669A>G
ENST00000556278.1:c.427A>G ENSP00000451792.1:p.Arg143Gly
ENST00000556494.5:n.803A>G
ENST00000557706.5:n.1244A>G
NM_000155.3:c.682A>G NP_000146.2:p.Arg228Gly
NM_001258332.1:c.355A>G NP_001245261.1:p.Arg119Gly
NM_000155.4:c.682A>G MANE Select NP_000146.2:p.Arg228Gly
NM_001258332.2:c.355A>G NP_001245261.1:p.Arg119Gly