Canonical Allele Identifier: CA402994325
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 546535
ClinVar RCV Id: RCV000658429
dbSNP Id: rs750356640
MyVariant Identifiers: chr19:g.1398956G>C (hg19) chr19:g.1398957G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398957G>C , CM000681.2:g.1398957G>C GRCh38
NC_000019.9:g.1398956G>C , CM000681.1:g.1398956G>C GRCh37
NC_000019.8:g.1349956G>C NCBI36
NG_009785.1:g.7597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.529C>G MANE Select ENSP00000252288.1:p.Leu177Val
ENST00000447102.8:c.529C>G ENSP00000403536.2:p.Leu177Val
ENST00000591788.3:c.212C>G
ENST00000640164.1:n.362C>G
ENST00000640762.1:c.460C>G ENSP00000492031.1:p.Leu154Val
ENST00000252288.6:c.529C>G ENSP00000252288.1:p.Leu177Val
ENST00000447102.7:c.529C>G ENSP00000403536.2:p.Leu177Val
ENST00000591788.2:c.214C>G ENSP00000466341.2:p.Leu72Val
NM_000156.5:c.529C>G NP_000147.1:p.Leu177Val
NM_138924.2:c.529C>G NP_620279.1:p.Leu177Val
NM_000156.6:c.529C>G MANE Select NP_000147.1:p.Leu177Val
NM_138924.3:c.529C>G NP_620279.1:p.Leu177Val
Search 100 bp 5'
Search 100 bp 3'