Canonical Allele Identifier: CA2573334549
Gene: GAMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399849_1399850insTA , CM000681.2:g.1399849_1399850insTA GRCh38
NC_000019.9:g.1399848_1399849insTA , CM000681.1:g.1399848_1399849insTA GRCh37
NC_000019.8:g.1350848_1350849insTA NCBI36
NG_009785.1:g.6705_6706insAT

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.271_272insAT MANE Select ENSP00000252288.1:p.Cys91TyrfsTer24
ENST00000447102.8:c.271_272insAT ENSP00000403536.2:p.Cys91TyrfsTer24
ENST00000640762.1:c.202_203insAT ENSP00000492031.1:p.Cys68TyrfsTer24
ENST00000252288.6:c.271_272insAT ENSP00000252288.1:p.Cys91TyrfsTer24
ENST00000447102.7:c.271_272insAT ENSP00000403536.2:p.Cys91TyrfsTer24
NM_000156.5:c.271_272insAT NP_000147.1:p.Cys91TyrfsTer24
NM_138924.2:c.271_272insAT NP_620279.1:p.Cys91TyrfsTer24
NM_000156.6:c.271_272insAT MANE Select NP_000147.1:p.Cys91TyrfsTer24
NM_138924.3:c.271_272insAT NP_620279.1:p.Cys91TyrfsTer24
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