Canonical Allele Identifier: CA1978913146
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750420G= , CM000673.2:g.64750420G= GRCh38
NC_000011.9:g.64517892G= , CM000673.1:g.64517892G= GRCh37
NC_000011.8:g.64274468G= NCBI36
NG_007574.1:g.37C= , LRG_100:g.37C=
NG_013018.1:g.15296C=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2133C= MANE Select ENSP00000164139.3:p.Ile711=
ENST00000164139.3:c.2133C= ENSP00000164139.3:p.Ile711=
ENST00000377432.7:c.1869C= ENSP00000366650.3:p.Ile623=
NM_001164716.1:c.1869C= NP_001158188.1:p.Ile623=
NM_005609.2:c.2133C= NP_005600.1:p.Ile711=
NM_005609.3:c.2133C= NP_005600.1:p.Ile711=
NM_005609.4:c.2133C= MANE Select NP_005600.1:p.Ile711=