Canonical Allele Identifier: CA402994583
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398991A>T (hg19) chr19:g.1398992A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398992A>T , CM000681.2:g.1398992A>T GRCh38
NC_000019.9:g.1398991A>T , CM000681.1:g.1398991A>T GRCh37
NC_000019.8:g.1349991A>T NCBI36
NG_009785.1:g.7562T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.494T>A MANE Select ENSP00000252288.1:p.Val165Asp
ENST00000447102.8:c.494T>A ENSP00000403536.2:p.Val165Asp
ENST00000591788.3:c.177T>A
ENST00000640164.1:n.327T>A
ENST00000640762.1:c.425T>A ENSP00000492031.1:p.Val142Asp
ENST00000252288.6:c.494T>A ENSP00000252288.1:p.Val165Asp
ENST00000447102.7:c.494T>A ENSP00000403536.2:p.Val165Asp
ENST00000591788.2:c.179T>A ENSP00000466341.2:p.Val60Asp
NM_000156.5:c.494T>A NP_000147.1:p.Val165Asp
NM_138924.2:c.494T>A NP_620279.1:p.Val165Asp
NM_000156.6:c.494T>A MANE Select NP_000147.1:p.Val165Asp
NM_138924.3:c.494T>A NP_620279.1:p.Val165Asp
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