Canonical Allele Identifier: CA2839166921
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399915dup , CM000681.2:g.1399915dup GRCh38
NC_000019.9:g.1399914dup , CM000681.1:g.1399914dup GRCh37
NC_000019.8:g.1350914dup NCBI36
NG_009785.1:g.6641dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.207dup MANE Select ENSP00000252288.1:p.Gly70TrpfsTer15
ENST00000447102.8:c.207dup ENSP00000403536.2:p.Gly70TrpfsTer15
ENST00000640762.1:c.138dup ENSP00000492031.1:p.Gly47TrpfsTer15
ENST00000252288.6:c.207dup ENSP00000252288.1:p.Gly70TrpfsTer15
ENST00000447102.7:c.207dup ENSP00000403536.2:p.Gly70TrpfsTer15
NM_000156.5:c.207dup NP_000147.1:p.Gly70TrpfsTer15
NM_138924.2:c.207dup NP_620279.1:p.Gly70TrpfsTer15
NM_000156.6:c.207dup MANE Select NP_000147.1:p.Gly70TrpfsTer15
NM_138924.3:c.207dup NP_620279.1:p.Gly70TrpfsTer15
Search 100 bp 5'
Search 100 bp 3'