Canonical Allele Identifier: CA2317699118
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs2082618341
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399149del , CM000681.2:g.1399149del GRCh38
NC_000019.9:g.1399148del , CM000681.1:g.1399148del GRCh37
NC_000019.8:g.1350148del NCBI36
NG_009785.1:g.7405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.438del MANE Select ENSP00000252288.1:p.His147ThrfsTer14
ENST00000447102.8:c.438del ENSP00000403536.2:p.His147ThrfsTer14
ENST00000591788.3:c.121del
ENST00000640164.1:n.271del
ENST00000640762.1:c.369del ENSP00000492031.1:p.His124ThrfsTer14
ENST00000252288.6:c.438del ENSP00000252288.1:p.His147ThrfsTer14
ENST00000447102.7:c.438del ENSP00000403536.2:p.His147ThrfsTer14
ENST00000591788.2:c.123del ENSP00000466341.2:p.His42ThrfsTer14
NM_000156.5:c.438del NP_000147.1:p.His147ThrfsTer14
NM_138924.2:c.438del NP_620279.1:p.His147ThrfsTer14
NM_000156.6:c.438del MANE Select NP_000147.1:p.His147ThrfsTer14
NM_138924.3:c.438del NP_620279.1:p.His147ThrfsTer14
Search 100 bp 5'
Search 100 bp 3'