Canonical Allele Identifier: CA1978928277
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758365G= , CM000673.2:g.64758365G= GRCh38
NC_000011.9:g.64525837G= , CM000673.1:g.64525837G= GRCh37
NC_000011.8:g.64282413G= NCBI36
NG_013018.1:g.7351C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.425-16C= MANE Select ENSP00000164139.3:n.425-16C=
ENST00000164139.3:c.425-16C= ENSP00000164139.3:n.425-16C=
ENST00000377432.7:c.244-99C= ENSP00000366650.3:n.244-99C=
NM_001164716.1:c.244-99C= NP_001158188.1:n.244-99C=
NM_005609.2:c.425-16C= NP_005600.1:n.425-16C=
NM_005609.3:c.425-16C= NP_005600.1:n.425-16C=
NM_005609.4:c.425-16C= MANE Select NP_005600.1:n.425-16C=