Canonical Allele Identifier: CA373281430
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648131G>C , CM000671.2:g.34648131G>C GRCh38
NC_000009.11:g.34648128G>C , CM000671.1:g.34648128G>C GRCh37
NC_000009.10:g.34638128G>C NCBI36
NG_009029.1:g.6494G>C
NG_028966.1:g.947G>C
NG_009029.2:g.6543G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*112G>C ENSP00000509954.1:n.*112G>C
ENST00000378842.8:c.524G>C MANE Select ENSP00000368119.4:p.Gly175Ala
ENST00000378842.7:c.524G>C ENSP00000368119.3:p.Gly175Ala
ENST00000450095.6:c.197G>C ENSP00000401956.2:p.Gly66Ala
ENST00000465543.6:n.863G>C
ENST00000472111.5:n.780G>C
ENST00000473506.6:c.*112G>C ENSP00000432839.2:n.*112G>C
ENST00000473529.5:n.683G>C
ENST00000485531.1:n.1118G>C
ENST00000487381.5:n.909G>C
ENST00000489643.6:n.299G>C
ENST00000554085.5:c.*268G>C ENSP00000450419.1:n.*268G>C
ENST00000554139.5:n.770G>C
ENST00000554550.5:c.*144G>C ENSP00000451435.1:n.*144G>C
ENST00000554638.5:n.996G>C
ENST00000554897.5:c.*211G>C ENSP00000450942.1:n.*211G>C
ENST00000554944.5:n.873G>C
ENST00000555020.5:n.680G>C
ENST00000555086.5:n.528G>C
ENST00000555214.5:n.345G>C
ENST00000556244.1:c.511G>C
ENST00000556278.1:c.269G>C ENSP00000451792.1:p.Gly90Ala
ENST00000556494.5:n.645G>C
ENST00000557706.5:n.1086G>C
NM_000155.3:c.524G>C NP_000146.2:p.Gly175Ala
NM_001258332.1:c.197G>C NP_001245261.1:p.Gly66Ala
NM_000155.4:c.524G>C MANE Select NP_000146.2:p.Gly175Ala
NM_001258332.2:c.197G>C NP_001245261.1:p.Gly66Ala