Canonical Allele Identifier: CA913015583
Gene: GAMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.1398996_1398997insCA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398998_1398999insAC , CM000681.2:g.1398998_1398999insAC GRCh38
NC_000019.9:g.1398997_1398998insAC , CM000681.1:g.1398997_1398998insAC GRCh37
NC_000019.8:g.1349997_1349998insAC NCBI36
NG_009785.1:g.7556_7557insTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.488_489insTG MANE Select ENSP00000252288.1:p.Val165AlafsTer14
ENST00000447102.8:c.488_489insTG ENSP00000403536.2:p.Val165AlafsTer14
ENST00000591788.3:c.171_172insTG
ENST00000640164.1:n.321_322insTG
ENST00000640762.1:c.419_420insTG ENSP00000492031.1:p.Val142AlafsTer14
ENST00000252288.6:c.488_489insTG ENSP00000252288.1:p.Val165AlafsTer14
ENST00000447102.7:c.488_489insTG ENSP00000403536.2:p.Val165AlafsTer14
ENST00000591788.2:c.173_174insTG ENSP00000466341.2:p.Val60AlafsTer14
NM_000156.5:c.488_489insTG NP_000147.1:p.Val165AlafsTer14
NM_138924.2:c.488_489insTG NP_620279.1:p.Val165AlafsTer14
NM_000156.6:c.488_489insTG MANE Select NP_000147.1:p.Val165AlafsTer14
NM_138924.3:c.488_489insTG NP_620279.1:p.Val165AlafsTer14
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