Canonical Allele Identifier: CA1978916312
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751448T= , CM000673.2:g.64751448T= GRCh38
NC_000011.9:g.64518920T= , CM000673.1:g.64518920T= GRCh37
NC_000011.8:g.64275496T= NCBI36
NG_013018.1:g.14268A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1846A= MANE Select ENSP00000164139.3:p.Met616=
ENST00000164139.3:c.1846A= ENSP00000164139.3:p.Met616=
ENST00000377432.7:c.1582A= ENSP00000366650.3:p.Met528=
ENST00000462303.1:n.170A=
NM_001164716.1:c.1582A= NP_001158188.1:p.Met528=
NM_005609.2:c.1846A= NP_005600.1:p.Met616=
NM_005609.3:c.1846A= NP_005600.1:p.Met616=
NM_005609.4:c.1846A= MANE Select NP_005600.1:p.Met616=