Canonical Allele Identifier: CA402994301
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 544258
ClinVar RCV Id: RCV000655364
dbSNP Id: rs1555777015
MyVariant Identifiers: chr19:g.1398955A>C (hg19) chr19:g.1398956A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398956A>C , CM000681.2:g.1398956A>C GRCh38
NC_000019.9:g.1398955A>C , CM000681.1:g.1398955A>C GRCh37
NC_000019.8:g.1349955A>C NCBI36
NG_009785.1:g.7598T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.530T>G MANE Select ENSP00000252288.1:p.Leu177Arg
ENST00000447102.8:c.530T>G ENSP00000403536.2:p.Leu177Arg
ENST00000591788.3:c.213T>G
ENST00000640164.1:n.363T>G
ENST00000640762.1:c.461T>G ENSP00000492031.1:p.Leu154Arg
ENST00000252288.6:c.530T>G ENSP00000252288.1:p.Leu177Arg
ENST00000447102.7:c.530T>G ENSP00000403536.2:p.Leu177Arg
ENST00000591788.2:c.215T>G ENSP00000466341.2:p.Leu72Arg
NM_000156.5:c.530T>G NP_000147.1:p.Leu177Arg
NM_138924.2:c.530T>G NP_620279.1:p.Leu177Arg
NM_000156.6:c.530T>G MANE Select NP_000147.1:p.Leu177Arg
NM_138924.3:c.530T>G NP_620279.1:p.Leu177Arg
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