Canonical Allele Identifier: CA1978929636

Gene: PYGM

Linked Data

• dbSNP Id: rs2058420209

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759660_64759661insAA , CM000673.2:g.64759660_64759661insAA	GRCh38
NC_000011.9:g.64527132_64527133insAA , CM000673.1:g.64527132_64527133insAA	GRCh37
NC_000011.8:g.64283708_64283709insAA	NCBI36
NG_013018.1:g.6055_6056insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.238_239insTT MANE Select	ENSP00000164139.3:p.Pro80LeufsTer10
ENST00000164139.3:c.238_239insTT	ENSP00000164139.3:p.Pro80LeufsTer10
ENST00000377432.7:c.238_239insTT	ENSP00000366650.3:p.Pro80LeufsTer?
NM_001164716.1:c.238_239insTT	NP_001158188.1:p.Pro80LeufsTer?
NM_005609.2:c.238_239insTT	NP_005600.1:p.Pro80LeufsTer10
NM_005609.3:c.238_239insTT	NP_005600.1:p.Pro80LeufsTer10
NM_005609.4:c.238_239insTT MANE Select	NP_005600.1:p.Pro80LeufsTer10