Canonical Allele Identifier: CA1978928558
Community Standard Title: NM_005609.4(PYGM):c.278G= (p.Gly93=)
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758670C= , CM000673.2:g.64758670C= GRCh38
NC_000011.9:g.64526142C= , CM000673.1:g.64526142C= GRCh37
NC_000011.8:g.64282718C= NCBI36
NG_013018.1:g.7046G=

Transcript Alleles

HGVS Amino-acid Change
NM_005609.4:c.278G= MANE Select NP_005600.1:p.Gly93=
ENST00000164139.4:c.278G= MANE Select ENSP00000164139.3:p.Gly93=
NM_001164716.1:c.244-404G= NP_001158188.1:n.244-404G=
NM_005609.2:c.278G= NP_005600.1:p.Gly93=
NM_005609.3:c.278G= NP_005600.1:p.Gly93=
ENST00000164139.3:c.278G= ENSP00000164139.3:p.Gly93=
ENST00000377432.7:c.244-404G= ENSP00000366650.3:n.244-404G=