Canonical Allele Identifier: CA2576548659
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399191dup , CM000681.2:g.1399191dup GRCh38
NC_000019.9:g.1399190dup , CM000681.1:g.1399190dup GRCh37
NC_000019.8:g.1350190dup NCBI36
NG_009785.1:g.7364dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.397dup MANE Select ENSP00000252288.1:p.Leu133ProfsTer?
ENST00000447102.8:c.397dup ENSP00000403536.2:p.Leu133ProfsTer?
ENST00000591788.3:c.80dup
ENST00000640164.1:n.230dup
ENST00000640762.1:c.328dup ENSP00000492031.1:p.Leu110ProfsTer?
ENST00000252288.6:c.397dup ENSP00000252288.1:p.Leu133ProfsTer?
ENST00000447102.7:c.397dup ENSP00000403536.2:p.Leu133ProfsTer?
ENST00000591788.2:c.82dup ENSP00000466341.2:p.Leu28ProfsTer?
NM_000156.5:c.397dup NP_000147.1:p.Leu133ProfsTer?
NM_138924.2:c.397dup NP_620279.1:p.Leu133ProfsTer?
NM_000156.6:c.397dup MANE Select NP_000147.1:p.Leu133ProfsTer?
NM_138924.3:c.397dup NP_620279.1:p.Leu133ProfsTer?
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