Canonical Allele Identifier: CA2580096095
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1982932
ClinVar RCV Id: RCV002766922
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401345_1401352dup , CM000681.2:g.1401345_1401352dup GRCh38
NC_000019.9:g.1401344_1401351dup , CM000681.1:g.1401344_1401351dup GRCh37
NC_000019.8:g.1352344_1352351dup NCBI36
NG_009785.1:g.5205_5212dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.128_135dup MANE Select ENSP00000252288.1:p.Glu46SerfsTer?
ENST00000447102.8:c.128_135dup ENSP00000403536.2:p.Glu46SerfsTer?
ENST00000640762.1:c.112+16_112+23dup ENSP00000492031.1:n.112+16_112+23dup
ENST00000252288.6:c.128_135dup ENSP00000252288.1:p.Glu46SerfsTer?
ENST00000447102.7:c.128_135dup ENSP00000403536.2:p.Glu46SerfsTer?
NM_000156.5:c.128_135dup NP_000147.1:p.Glu46SerfsTer?
NM_138924.2:c.128_135dup NP_620279.1:p.Glu46SerfsTer?
NM_000156.6:c.128_135dup MANE Select NP_000147.1:p.Glu46SerfsTer?
NM_138924.3:c.128_135dup NP_620279.1:p.Glu46SerfsTer?
Search 100 bp 5'
Search 100 bp 3'