Canonical Allele Identifier: CA373281401
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648128A>G , CM000671.2:g.34648128A>G GRCh38
NC_000009.11:g.34648125A>G , CM000671.1:g.34648125A>G GRCh37
NC_000009.10:g.34638125A>G NCBI36
NG_009029.1:g.6491A>G
NG_028966.1:g.944A>G
NG_009029.2:g.6540A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*109A>G ENSP00000509954.1:n.*109A>G
ENST00000378842.8:c.521A>G MANE Select ENSP00000368119.4:p.Lys174Arg
ENST00000378842.7:c.521A>G ENSP00000368119.3:p.Lys174Arg
ENST00000450095.6:c.194A>G ENSP00000401956.2:p.Lys65Arg
ENST00000465543.6:n.860A>G
ENST00000472111.5:n.777A>G
ENST00000473506.6:c.*109A>G ENSP00000432839.2:n.*109A>G
ENST00000473529.5:n.680A>G
ENST00000485531.1:n.1115A>G
ENST00000487381.5:n.906A>G
ENST00000489643.6:n.296A>G
ENST00000554085.5:c.*265A>G ENSP00000450419.1:n.*265A>G
ENST00000554139.5:n.767A>G
ENST00000554550.5:c.*141A>G ENSP00000451435.1:n.*141A>G
ENST00000554638.5:n.993A>G
ENST00000554897.5:c.*208A>G ENSP00000450942.1:n.*208A>G
ENST00000554944.5:n.870A>G
ENST00000555020.5:n.677A>G
ENST00000555086.5:n.525A>G
ENST00000555214.5:n.342A>G
ENST00000556244.1:c.508A>G
ENST00000556278.1:c.266A>G ENSP00000451792.1:p.Lys89Arg
ENST00000556494.5:n.642A>G
ENST00000557706.5:n.1083A>G
NM_000155.3:c.521A>G NP_000146.2:p.Lys174Arg
NM_001258332.1:c.194A>G NP_001245261.1:p.Lys65Arg
NM_000155.4:c.521A>G MANE Select NP_000146.2:p.Lys174Arg
NM_001258332.2:c.194A>G NP_001245261.1:p.Lys65Arg