Canonical Allele Identifier: CA259507
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38277
dbSNP Id: rs111033831

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648889G>A , CM000671.2:g.34648889G>A GRCh38
NC_000009.11:g.34648886G>A , CM000671.1:g.34648886G>A GRCh37
NC_000009.10:g.34638886G>A NCBI36
NG_009029.1:g.7252G>A
NG_028966.1:g.1705G>A
NG_009029.2:g.7301G>A

Transcript Alleles

HGVS Amino-acid change
NM_000155.3:c.815G>A VV NP_000146.2:p.Arg272His
NM_001258332.1:c.488G>A VV NP_001245261.1:p.Arg163His
ENST00000378842.7:c.815G>A ENSP00000368119.3:p.Arg272His
ENST00000450095.6:c.488G>A ENSP00000401956.2:p.Arg163His
ENST00000473506.6:c.*403G>A ENSP00000432839.2:p.=
ENST00000489643.6:n.895G>A
ENST00000554085.5:c.*559G>A ENSP00000450419.1:p.=
ENST00000554550.5:c.*435G>A ENSP00000451435.1:p.=
ENST00000554638.5:n.1287G>A
ENST00000555020.5:n.1276G>A
ENST00000555086.5:n.819G>A
ENST00000555754.1:n.160G>A
ENST00000556244.1:n.802G>A
ENST00000556278.1:c.432+433G>A ENSP00000451792.1:p.=
ENST00000557706.5:n.1377G>A