Canonical Allele Identifier: CA2580096090
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2189402
ClinVar RCV Id: RCV002607330
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401319_1401320delinsCT , CM000681.2:g.1401319_1401320delinsCT GRCh38
NC_000019.9:g.1401318_1401319delinsCT , CM000681.1:g.1401318_1401319delinsCT GRCh37
NC_000019.8:g.1352318_1352319delinsCT NCBI36
NG_009785.1:g.5234_5235delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.157_158delinsAG MANE Select ENSP00000252288.1:p.Leu53Arg
ENST00000447102.8:c.157_158delinsAG ENSP00000403536.2:p.Leu53Arg
ENST00000640762.1:c.112+45_112+46delinsAG ENSP00000492031.1:n.112+45_112+46delinsAG
ENST00000252288.6:c.157_158delinsAG ENSP00000252288.1:p.Leu53Arg
ENST00000447102.7:c.157_158delinsAG ENSP00000403536.2:p.Leu53Arg
NM_000156.5:c.157_158delinsAG NP_000147.1:p.Leu53Arg
NM_138924.2:c.157_158delinsAG NP_620279.1:p.Leu53Arg
NM_000156.6:c.157_158delinsAG MANE Select NP_000147.1:p.Leu53Arg
NM_138924.3:c.157_158delinsAG NP_620279.1:p.Leu53Arg
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