Canonical Allele Identifier: CA1978919034
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747245T= , CM000673.2:g.64747245T= GRCh38
NC_000011.9:g.64514717T= , CM000673.1:g.64514717T= GRCh37
NC_000011.8:g.64271293T= NCBI36
NG_007574.1:g.3212A= , LRG_100:g.3212A=
NG_013018.1:g.18471A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2291A= MANE Select ENSP00000164139.3:p.Asn764=
ENST00000164139.3:c.2291A= ENSP00000164139.3:p.Asn764=
ENST00000377432.7:c.2027A= ENSP00000366650.3:p.Asn676=
ENST00000483742.1:n.1644A=
NM_001164716.1:c.2027A= NP_001158188.1:p.Asn676=
NM_005609.2:c.2291A= NP_005600.1:p.Asn764=
NM_005609.3:c.2291A= NP_005600.1:p.Asn764=
NM_005609.4:c.2291A= MANE Select NP_005600.1:p.Asn764=