Canonical Allele Identifier: CA1978921146
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753553C= , CM000673.2:g.64753553C= GRCh38
NC_000011.9:g.64521025C= , CM000673.1:g.64521025C= GRCh37
NC_000011.8:g.64277601C= NCBI36
NG_013018.1:g.12163G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1369G= MANE Select ENSP00000164139.3:p.Ala457=
ENST00000164139.3:c.1369G= ENSP00000164139.3:p.Ala457=
ENST00000377432.7:c.1105G= ENSP00000366650.3:p.Ala369=
NM_001164716.1:c.1105G= NP_001158188.1:p.Ala369=
NM_005609.2:c.1369G= NP_005600.1:p.Ala457=
NM_005609.3:c.1369G= NP_005600.1:p.Ala457=
NM_005609.4:c.1369G= MANE Select NP_005600.1:p.Ala457=