Canonical Allele Identifier: CA314818
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205587
ClinVar RCV Id: RCV000187572
dbSNP Id: rs796052526
gnomAD v2: 19-1398958-T-G
gnomAD v4: 19-1398959-T-G
MyVariant Identifiers: chr19:g.1398958T>G (hg19) chr19:g.1398959T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.527A>C MANE Select ENSP00000252288.1:p.Glu176Ala
ENST00000447102.8:c.527A>C ENSP00000403536.2:p.Glu176Ala
ENST00000591788.3:c.210A>C
ENST00000640164.1:n.360A>C
ENST00000640762.1:c.458A>C ENSP00000492031.1:p.Glu153Ala
ENST00000252288.6:c.527A>C ENSP00000252288.1:p.Glu176Ala
ENST00000447102.7:c.527A>C ENSP00000403536.2:p.Glu176Ala
ENST00000591788.2:c.212A>C ENSP00000466341.2:p.Glu71Ala
NM_000156.5:c.527A>C NP_000147.1:p.Glu176Ala
NM_138924.2:c.527A>C NP_620279.1:p.Glu176Ala
NM_000156.6:c.527A>C MANE Select NP_000147.1:p.Glu176Ala
NM_138924.3:c.527A>C NP_620279.1:p.Glu176Ala
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