Canonical Allele Identifier: CA1978919861
Gene: PYGM HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747555G= , CM000673.2:g.64747555G= GRCh38
NC_000011.9:g.64515027G= , CM000673.1:g.64515027G= GRCh37
NC_000011.8:g.64271603G= NCBI36
NG_007574.1:g.2902C= , LRG_100:g.2902C=
NG_013018.1:g.18161C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2178-197C= MANE Select ENSP00000164139.3:n.2178-197C=
ENST00000164139.3:c.2178-197C= ENSP00000164139.3:n.2178-197C=
ENST00000377432.7:c.1914-197C= ENSP00000366650.3:n.1914-197C=
ENST00000483742.1:n.1334C=
NM_001164716.1:c.1914-197C= NP_001158188.1:n.1914-197C=
NM_005609.2:c.2178-197C= NP_005600.1:n.2178-197C=
NM_005609.3:c.2178-197C= NP_005600.1:n.2178-197C=
NM_005609.4:c.2178-197C= MANE Select NP_005600.1:n.2178-197C=
Search 100 bp 5'
Search 100 bp 3'