Canonical Allele Identifier: CA259469
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 25241
ClinVar RCV Id: RCV000022177
dbSNP Id: rs111033825
MyVariant Identifiers: chr9:g.34648427dupG (hg38)

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648427dup , CM000671.2:g.34648427dup GRCh38
NC_000009.10:g.34638424dup NCBI36
NC_000009.11:g.34648424dup , CM000671.1:g.34648424dup GRCh37
NG_009029.1:g.6790dup
NG_028966.1:g.1243dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378842.7:c.658dup ENSP00000368119.3:p.Glu220GlyfsTer18
ENST00000450095.6:c.331dup ENSP00000401956.2:p.Glu111GlyfsTer18
ENST00000472111.5:n.914dup
ENST00000473506.6:c.*246dup ENSP00000432839.2:p.=
ENST00000473529.5:n.817dup
ENST00000487381.5:n.1043dup
ENST00000489643.6:n.433dup
ENST00000554085.5:c.*402dup ENSP00000450419.1:p.=
ENST00000554550.5:c.*278dup ENSP00000451435.1:p.=
ENST00000554638.5:n.1130dup
ENST00000555020.5:n.814dup
ENST00000555086.5:n.662dup
ENST00000555214.5:n.479dup
ENST00000555754.1:n.3dup
ENST00000556244.1:n.645dup
ENST00000556278.1:c.403dup ENSP00000451792.1:p.Glu135GlyfsTer?
ENST00000556494.5:n.779dup
ENST00000557706.5:n.1220dup
NM_000155.3:c.658dup VV NP_000146.2:p.Glu220GlyfsTer18
NM_001258332.1:c.331dup VV NP_001245261.1:p.Glu111GlyfsTer18