Canonical Allele Identifier: CA2582641921
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401395-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401396dup , CM000681.2:g.1401396dup GRCh38
NC_000019.9:g.1401395dup , CM000681.1:g.1401395dup GRCh37
NC_000019.8:g.1352395dup NCBI36
NG_009785.1:g.5158dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.81dup MANE Select ENSP00000252288.1:p.Asp28ArgfsTer?
ENST00000447102.8:c.81dup ENSP00000403536.2:p.Asp28ArgfsTer?
ENST00000640762.1:c.81dup ENSP00000492031.1:p.Asp28ArgfsTer?
ENST00000252288.6:c.81dup ENSP00000252288.1:p.Asp28ArgfsTer?
ENST00000447102.7:c.81dup ENSP00000403536.2:p.Asp28ArgfsTer?
NM_000156.5:c.81dup NP_000147.1:p.Asp28ArgfsTer?
NM_138924.2:c.81dup NP_620279.1:p.Asp28ArgfsTer?
NM_000156.6:c.81dup MANE Select NP_000147.1:p.Asp28ArgfsTer?
NM_138924.3:c.81dup NP_620279.1:p.Asp28ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'