Canonical Allele Identifier: CA5036210
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs370031642
gnomAD v2: 9-34648855-C-T
gnomAD v4: 9-34648858-C-T
COSMIC: COSM291134

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648858C>T , CM000671.2:g.34648858C>T GRCh38
NC_000009.11:g.34648855C>T , CM000671.1:g.34648855C>T GRCh37
NC_000009.10:g.34638855C>T NCBI36
NG_009029.1:g.7221C>T
NG_028966.1:g.1674C>T
NG_009029.2:g.7270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*372C>T ENSP00000509954.1:n.*372C>T
ENST00000378842.8:c.784C>T MANE Select ENSP00000368119.4:p.Arg262Trp
ENST00000378842.7:c.784C>T ENSP00000368119.3:p.Arg262Trp
ENST00000450095.6:c.457C>T ENSP00000401956.2:p.Arg153Trp
ENST00000473506.6:c.*372C>T ENSP00000432839.2:n.*372C>T
ENST00000489643.6:n.864C>T
ENST00000554085.5:c.*528C>T ENSP00000450419.1:n.*528C>T
ENST00000554550.5:c.*404C>T ENSP00000451435.1:n.*404C>T
ENST00000554638.5:n.1256C>T
ENST00000555020.5:n.1245C>T
ENST00000555086.5:n.788C>T
ENST00000555754.1:n.129C>T
ENST00000556244.1:c.771C>T
ENST00000556278.1:c.432+402C>T ENSP00000451792.1:n.432+402C>T
ENST00000557706.5:n.1346C>T
NM_000155.3:c.784C>T NP_000146.2:p.Arg262Trp
NM_001258332.1:c.457C>T NP_001245261.1:p.Arg153Trp
NM_000155.4:c.784C>T MANE Select NP_000146.2:p.Arg262Trp
NM_001258332.2:c.457C>T NP_001245261.1:p.Arg153Trp