Canonical Allele Identifier: CA402995123
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1425640600
gnomAD v2: 19-1399152-T-C
gnomAD v4: 19-1399153-T-C
MyVariant Identifiers: chr19:g.1399152T>C (hg19) chr19:g.1399153T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399153T>C , CM000681.2:g.1399153T>C GRCh38
NC_000019.9:g.1399152T>C , CM000681.1:g.1399152T>C GRCh37
NC_000019.8:g.1350152T>C NCBI36
NG_009785.1:g.7401A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.434A>G MANE Select ENSP00000252288.1:p.His145Arg
ENST00000447102.8:c.434A>G ENSP00000403536.2:p.His145Arg
ENST00000591788.3:c.117A>G
ENST00000640164.1:n.267A>G
ENST00000640762.1:c.365A>G ENSP00000492031.1:p.His122Arg
ENST00000252288.6:c.434A>G ENSP00000252288.1:p.His145Arg
ENST00000447102.7:c.434A>G ENSP00000403536.2:p.His145Arg
ENST00000591788.2:c.119A>G ENSP00000466341.2:p.His40Arg
NM_000156.5:c.434A>G NP_000147.1:p.His145Arg
NM_138924.2:c.434A>G NP_620279.1:p.His145Arg
NM_000156.6:c.434A>G MANE Select NP_000147.1:p.His145Arg
NM_138924.3:c.434A>G NP_620279.1:p.His145Arg
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