Canonical Allele Identifier: CA1978919304
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747304C= , CM000673.2:g.64747304C= GRCh38
NC_000011.9:g.64514776C= , CM000673.1:g.64514776C= GRCh37
NC_000011.8:g.64271352C= NCBI36
NG_007574.1:g.3153G= , LRG_100:g.3153G=
NG_013018.1:g.18412G=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2232G= MANE Select ENSP00000164139.3:p.Glu744=
ENST00000164139.3:c.2232G= ENSP00000164139.3:p.Glu744=
ENST00000377432.7:c.1968G= ENSP00000366650.3:p.Glu656=
ENST00000483742.1:n.1585G=
NM_001164716.1:c.1968G= NP_001158188.1:p.Glu656=
NM_005609.2:c.2232G= NP_005600.1:p.Glu744=
NM_005609.3:c.2232G= NP_005600.1:p.Glu744=
NM_005609.4:c.2232G= MANE Select NP_005600.1:p.Glu744=