Canonical Allele Identifier: CA402994329
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2012541
ClinVar RCV Id: RCV002843194
gnomAD v4: 19-1398959-T-C
MyVariant Identifiers: chr19:g.1398958T>C (hg19) chr19:g.1398959T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398959T>C , CM000681.2:g.1398959T>C GRCh38
NC_000019.9:g.1398958T>C , CM000681.1:g.1398958T>C GRCh37
NC_000019.8:g.1349958T>C NCBI36
NG_009785.1:g.7595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.527A>G MANE Select ENSP00000252288.1:p.Glu176Gly
ENST00000447102.8:c.527A>G ENSP00000403536.2:p.Glu176Gly
ENST00000591788.3:c.210A>G
ENST00000640164.1:n.360A>G
ENST00000640762.1:c.458A>G ENSP00000492031.1:p.Glu153Gly
ENST00000252288.6:c.527A>G ENSP00000252288.1:p.Glu176Gly
ENST00000447102.7:c.527A>G ENSP00000403536.2:p.Glu176Gly
ENST00000591788.2:c.212A>G ENSP00000466341.2:p.Glu71Gly
NM_000156.5:c.527A>G NP_000147.1:p.Glu176Gly
NM_138924.2:c.527A>G NP_620279.1:p.Glu176Gly
NM_000156.6:c.527A>G MANE Select NP_000147.1:p.Glu176Gly
NM_138924.3:c.527A>G NP_620279.1:p.Glu176Gly
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