Canonical Allele Identifier: CA1978928643
Community Standard Title: NM_005609.4(PYGM):c.255C= (p.Tyr85=)
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758693G= , CM000673.2:g.64758693G= GRCh38
NC_000011.9:g.64526165G= , CM000673.1:g.64526165G= GRCh37
NC_000011.8:g.64282741G= NCBI36
NG_013018.1:g.7023C=

Transcript Alleles

HGVS Amino-acid Change
NM_005609.4:c.255C= MANE Select NP_005600.1:p.Tyr85=
ENST00000164139.4:c.255C= MANE Select ENSP00000164139.3:p.Tyr85=
NM_001164716.1:c.244-427C= NP_001158188.1:n.244-427C=
NM_005609.2:c.255C= NP_005600.1:p.Tyr85=
NM_005609.3:c.255C= NP_005600.1:p.Tyr85=
ENST00000164139.3:c.255C= ENSP00000164139.3:p.Tyr85=
ENST00000377432.7:c.244-427C= ENSP00000366650.3:n.244-427C=