Canonical Allele Identifier: CA402994593
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1398996-C-G
MyVariant Identifiers: chr19:g.1398995C>G (hg19) chr19:g.1398996C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398996C>G , CM000681.2:g.1398996C>G GRCh38
NC_000019.9:g.1398995C>G , CM000681.1:g.1398995C>G GRCh37
NC_000019.8:g.1349995C>G NCBI36
NG_009785.1:g.7558G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.490G>C MANE Select ENSP00000252288.1:p.Gly164Arg
ENST00000447102.8:c.490G>C ENSP00000403536.2:p.Gly164Arg
ENST00000591788.3:c.173G>C
ENST00000640164.1:n.323G>C
ENST00000640762.1:c.421G>C ENSP00000492031.1:p.Gly141Arg
ENST00000252288.6:c.490G>C ENSP00000252288.1:p.Gly164Arg
ENST00000447102.7:c.490G>C ENSP00000403536.2:p.Gly164Arg
ENST00000591788.2:c.175G>C ENSP00000466341.2:p.Gly59Arg
NM_000156.5:c.490G>C NP_000147.1:p.Gly164Arg
NM_138924.2:c.490G>C NP_620279.1:p.Gly164Arg
NM_000156.6:c.490G>C MANE Select NP_000147.1:p.Gly164Arg
NM_138924.3:c.490G>C NP_620279.1:p.Gly164Arg
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Search 100 bp 3'