Canonical Allele Identifier: CA2580096099
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2123720
ClinVar RCV Id: RCV003055218
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401395dup , CM000681.2:g.1401395dup GRCh38
NC_000019.9:g.1401394dup , CM000681.1:g.1401394dup GRCh37
NC_000019.8:g.1352394dup NCBI36
NG_009785.1:g.5159dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.82dup MANE Select ENSP00000252288.1:p.Asp28GlyfsTer?
ENST00000447102.8:c.82dup ENSP00000403536.2:p.Asp28GlyfsTer?
ENST00000640762.1:c.82dup ENSP00000492031.1:p.Asp28GlyfsTer?
ENST00000252288.6:c.82dup ENSP00000252288.1:p.Asp28GlyfsTer?
ENST00000447102.7:c.82dup ENSP00000403536.2:p.Asp28GlyfsTer?
NM_000156.5:c.82dup NP_000147.1:p.Asp28GlyfsTer?
NM_138924.2:c.82dup NP_620279.1:p.Asp28GlyfsTer?
NM_000156.6:c.82dup MANE Select NP_000147.1:p.Asp28GlyfsTer?
NM_138924.3:c.82dup NP_620279.1:p.Asp28GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'