Canonical Allele Identifier: CA2573155792
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1374768
ClinVar RCV Id: RCV001883192
dbSNP Id: rs2144636785
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399154_1399155dup , CM000681.2:g.1399154_1399155dup GRCh38
NC_000019.9:g.1399153_1399154dup , CM000681.1:g.1399153_1399154dup GRCh37
NC_000019.8:g.1350153_1350154dup NCBI36
NG_009785.1:g.7399_7400dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.432_433dup MANE Select ENSP00000252288.1:p.His145ArgfsTer17
ENST00000447102.8:c.432_433dup ENSP00000403536.2:p.His145ArgfsTer17
ENST00000591788.3:c.115_116dup
ENST00000640164.1:n.265_266dup
ENST00000640762.1:c.363_364dup ENSP00000492031.1:p.His122ArgfsTer17
ENST00000252288.6:c.432_433dup ENSP00000252288.1:p.His145ArgfsTer17
ENST00000447102.7:c.432_433dup ENSP00000403536.2:p.His145ArgfsTer17
ENST00000591788.2:c.117_118dup ENSP00000466341.2:p.His40ArgfsTer17
NM_000156.5:c.432_433dup NP_000147.1:p.His145ArgfsTer17
NM_138924.2:c.432_433dup NP_620279.1:p.His145ArgfsTer17
NM_000156.6:c.432_433dup MANE Select NP_000147.1:p.His145ArgfsTer17
NM_138924.3:c.432_433dup NP_620279.1:p.His145ArgfsTer17
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