Canonical Allele Identifier: CA1978928117
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758262A= , CM000673.2:g.64758262A= GRCh38
NC_000011.9:g.64525734A= , CM000673.1:g.64525734A= GRCh37
NC_000011.8:g.64282310A= NCBI36
NG_013018.1:g.7454T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.512T= MANE Select ENSP00000164139.3:p.Ile171=
ENST00000164139.3:c.512T= ENSP00000164139.3:p.Ile171=
ENST00000377432.7:c.248T= ENSP00000366650.3:p.Ile83=
NM_001164716.1:c.248T= NP_001158188.1:p.Ile83=
NM_005609.2:c.512T= NP_005600.1:p.Ile171=
NM_005609.3:c.512T= NP_005600.1:p.Ile171=
NM_005609.4:c.512T= MANE Select NP_005600.1:p.Ile171=