Canonical Allele Identifier: CA252844
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 3610
dbSNP Id: rs111033800
gnomAD v2: 9-34649499-C-T
gnomAD v4: 9-34649502-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649502C>T , CM000671.2:g.34649502C>T GRCh38
NC_000009.11:g.34649499C>T , CM000671.1:g.34649499C>T GRCh37
NC_000009.10:g.34639499C>T NCBI36
NG_009029.1:g.7865C>T
NG_028966.1:g.2318C>T
NG_009029.2:g.7914C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*585C>T ENSP00000509954.1:n.*585C>T
ENST00000378842.8:c.997C>T MANE Select ENSP00000368119.4:p.Arg333Trp
ENST00000378842.7:c.997C>T ENSP00000368119.3:p.Arg333Trp
ENST00000450095.6:c.670C>T ENSP00000401956.2:p.Arg224Trp
ENST00000488412.2:n.581C>T
ENST00000489643.6:n.1405C>T
ENST00000554550.5:c.*617C>T ENSP00000451435.1:n.*617C>T
ENST00000554638.5:n.1469C>T
ENST00000555020.5:n.1786C>T
ENST00000555754.1:n.445C>T
ENST00000556278.1:c.432+1046C>T ENSP00000451792.1:n.432+1046C>T
ENST00000557706.5:n.1572C>T
NM_000155.3:c.997C>T NP_000146.2:p.Arg333Trp
NM_001258332.1:c.670C>T NP_001245261.1:p.Arg224Trp
NM_000155.4:c.997C>T MANE Select NP_000146.2:p.Arg333Trp
NM_001258332.2:c.670C>T NP_001245261.1:p.Arg224Trp