Canonical Allele Identifier: CA402994349
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 853419
ClinVar RCV Id: RCV001058220
dbSNP Id: rs758371494
MyVariant Identifiers: chr19:g.1398962C>A (hg19) chr19:g.1398963C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398963C>A , CM000681.2:g.1398963C>A GRCh38
NC_000019.9:g.1398962C>A , CM000681.1:g.1398962C>A GRCh37
NC_000019.8:g.1349962C>A NCBI36
NG_009785.1:g.7591G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.523G>T MANE Select ENSP00000252288.1:p.Gly175Trp
ENST00000447102.8:c.523G>T ENSP00000403536.2:p.Gly175Trp
ENST00000591788.3:c.206G>T
ENST00000640164.1:n.356G>T
ENST00000640762.1:c.454G>T ENSP00000492031.1:p.Gly152Trp
ENST00000252288.6:c.523G>T ENSP00000252288.1:p.Gly175Trp
ENST00000447102.7:c.523G>T ENSP00000403536.2:p.Gly175Trp
ENST00000591788.2:c.208G>T ENSP00000466341.2:p.Gly70Trp
NM_000156.5:c.523G>T NP_000147.1:p.Gly175Trp
NM_138924.2:c.523G>T NP_620279.1:p.Gly175Trp
NM_000156.6:c.523G>T MANE Select NP_000147.1:p.Gly175Trp
NM_138924.3:c.523G>T NP_620279.1:p.Gly175Trp
Search 100 bp 5'
Search 100 bp 3'