Canonical Allele Identifier: CA918899333
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1592409016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751388_64751390del , CM000673.2:g.64751388_64751390del GRCh38
NC_000011.9:g.64518860_64518862del , CM000673.1:g.64518860_64518862del GRCh37
NC_000011.8:g.64275436_64275438del NCBI36
NG_013018.1:g.14327_14329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1905_1907del MANE Select ENSP00000164139.3:p.Ala636del
ENST00000164139.3:c.1905_1907del ENSP00000164139.3:p.Ala636del
ENST00000377432.7:c.1641_1643del ENSP00000366650.3:p.Ala548del
ENST00000462303.1:n.229_231del
NM_001164716.1:c.1641_1643del NP_001158188.1:p.Ala548del
NM_005609.2:c.1905_1907del NP_005600.1:p.Ala636del
NM_005609.3:c.1905_1907del NP_005600.1:p.Ala636del
NM_005609.4:c.1905_1907del MANE Select NP_005600.1:p.Ala636del
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