Canonical Allele Identifier: CA402994408
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398968A>C (hg19) chr19:g.1398969A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398969A>C , CM000681.2:g.1398969A>C GRCh38
NC_000019.9:g.1398968A>C , CM000681.1:g.1398968A>C GRCh37
NC_000019.8:g.1349968A>C NCBI36
NG_009785.1:g.7585T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.517T>G MANE Select ENSP00000252288.1:p.Ser173Ala
ENST00000447102.8:c.517T>G ENSP00000403536.2:p.Ser173Ala
ENST00000591788.3:c.200T>G
ENST00000640164.1:n.350T>G
ENST00000640762.1:c.448T>G ENSP00000492031.1:p.Ser150Ala
ENST00000252288.6:c.517T>G ENSP00000252288.1:p.Ser173Ala
ENST00000447102.7:c.517T>G ENSP00000403536.2:p.Ser173Ala
ENST00000591788.2:c.202T>G ENSP00000466341.2:p.Ser68Ala
NM_000156.5:c.517T>G NP_000147.1:p.Ser173Ala
NM_138924.2:c.517T>G NP_620279.1:p.Ser173Ala
NM_000156.6:c.517T>G MANE Select NP_000147.1:p.Ser173Ala
NM_138924.3:c.517T>G NP_620279.1:p.Ser173Ala
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