Canonical Allele Identifier: CA1978928438
Community Standard Title: NM_005609.4(PYGM):c.397G= (p.Gly133=)
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758464C= , CM000673.2:g.64758464C= GRCh38
NC_000011.9:g.64525936C= , CM000673.1:g.64525936C= GRCh37
NC_000011.8:g.64282512C= NCBI36
NG_013018.1:g.7252G=

Transcript Alleles

HGVS Amino-acid Change
NM_005609.4:c.397G= MANE Select NP_005600.1:p.Gly133=
ENST00000164139.4:c.397G= MANE Select ENSP00000164139.3:p.Gly133=
NM_001164716.1:c.244-198G= NP_001158188.1:n.244-198G=
NM_005609.2:c.397G= NP_005600.1:p.Gly133=
NM_005609.3:c.397G= NP_005600.1:p.Gly133=
ENST00000164139.3:c.397G= ENSP00000164139.3:p.Gly133=
ENST00000377432.7:c.244-198G= ENSP00000366650.3:n.244-198G=