Canonical Allele Identifier: CA1978913223
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750433T= , CM000673.2:g.64750433T= GRCh38
NC_000011.9:g.64517905T= , CM000673.1:g.64517905T= GRCh37
NC_000011.8:g.64274481T= NCBI36
NG_007574.1:g.24A= , LRG_100:g.24A=
NG_013018.1:g.15283A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2120A= MANE Select ENSP00000164139.3:p.Glu707=
ENST00000164139.3:c.2120A= ENSP00000164139.3:p.Glu707=
ENST00000377432.7:c.1856A= ENSP00000366650.3:p.Glu619=
NM_001164716.1:c.1856A= NP_001158188.1:p.Glu619=
NM_005609.2:c.2120A= NP_005600.1:p.Glu707=
NM_005609.3:c.2120A= NP_005600.1:p.Glu707=
NM_005609.4:c.2120A= MANE Select NP_005600.1:p.Glu707=