Canonical Allele Identifier: CA1978928155
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758286T= , CM000673.2:g.64758286T= GRCh38
NC_000011.9:g.64525758T= , CM000673.1:g.64525758T= GRCh37
NC_000011.8:g.64282334T= NCBI36
NG_013018.1:g.7430A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.488A= MANE Select ENSP00000164139.3:p.Glu163=
ENST00000164139.3:c.488A= ENSP00000164139.3:p.Glu163=
ENST00000377432.7:c.244-20A= ENSP00000366650.3:n.244-20A=
NM_001164716.1:c.244-20A= NP_001158188.1:n.244-20A=
NM_005609.2:c.488A= NP_005600.1:p.Glu163=
NM_005609.3:c.488A= NP_005600.1:p.Glu163=
NM_005609.4:c.488A= MANE Select NP_005600.1:p.Glu163=