Canonical Allele Identifier: CA1978928110
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758258G= , CM000673.2:g.64758258G= GRCh38
NC_000011.9:g.64525730G= , CM000673.1:g.64525730G= GRCh37
NC_000011.8:g.64282306G= NCBI36
NG_013018.1:g.7458C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.516C= MANE Select ENSP00000164139.3:p.Ser172=
ENST00000164139.3:c.516C= ENSP00000164139.3:p.Ser172=
ENST00000377432.7:c.252C= ENSP00000366650.3:p.Ser84=
NM_001164716.1:c.252C= NP_001158188.1:p.Ser84=
NM_005609.2:c.516C= NP_005600.1:p.Ser172=
NM_005609.3:c.516C= NP_005600.1:p.Ser172=
NM_005609.4:c.516C= MANE Select NP_005600.1:p.Ser172=