Canonical Allele Identifier: CA2499225402
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1067935
ClinVar RCV Id: RCV001379333 RCV003298627
dbSNP Id: rs2144636246
gnomAD v3: 19-1398959-TC-T
gnomAD v4: 19-1398959-TC-T
ERepo: CA2499225402/MONDO:0012999/026
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398965del , CM000681.2:g.1398965del GRCh38
NC_000019.9:g.1398964del , CM000681.1:g.1398964del GRCh37
NC_000019.8:g.1349964del NCBI36
NG_009785.1:g.7594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.526del MANE Select ENSP00000252288.1:p.Glu176SerfsTer2
ENST00000447102.8:c.526del ENSP00000403536.2:p.Glu176SerfsTer2
ENST00000591788.3:c.209del
ENST00000640164.1:n.359del
ENST00000640762.1:c.457del ENSP00000492031.1:p.Glu153SerfsTer2
ENST00000252288.6:c.526del ENSP00000252288.1:p.Glu176SerfsTer2
ENST00000447102.7:c.526del ENSP00000403536.2:p.Glu176SerfsTer2
ENST00000591788.2:c.211del ENSP00000466341.2:p.Glu71SerfsTer2
NM_000156.5:c.526del NP_000147.1:p.Glu176SerfsTer2
NM_138924.2:c.526del NP_620279.1:p.Glu176SerfsTer2
NM_000156.6:c.526del MANE Select NP_000147.1:p.Glu176SerfsTer2
NM_138924.3:c.526del NP_620279.1:p.Glu176SerfsTer2
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Search 100 bp 3'