Canonical Allele Identifier: CA1978916163
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751399T= , CM000673.2:g.64751399T= GRCh38
NC_000011.9:g.64518871T= , CM000673.1:g.64518871T= GRCh37
NC_000011.8:g.64275447T= NCBI36
NG_013018.1:g.14317A=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1895A= MANE Select ENSP00000164139.3:p.Asn632=
ENST00000164139.3:c.1895A= ENSP00000164139.3:p.Asn632=
ENST00000377432.7:c.1631A= ENSP00000366650.3:p.Asn544=
ENST00000462303.1:n.219A=
NM_001164716.1:c.1631A= NP_001158188.1:p.Asn544=
NM_005609.2:c.1895A= NP_005600.1:p.Asn632=
NM_005609.3:c.1895A= NP_005600.1:p.Asn632=
NM_005609.4:c.1895A= MANE Select NP_005600.1:p.Asn632=