Canonical Allele Identifier: CA1978928496
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758579C= , CM000673.2:g.64758579C= GRCh38
NC_000011.9:g.64526051C= , CM000673.1:g.64526051C= GRCh37
NC_000011.8:g.64282627C= NCBI36
NG_013018.1:g.7137G=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.345+24G= MANE Select ENSP00000164139.3:n.345+24G=
ENST00000164139.3:c.345+24G= ENSP00000164139.3:n.345+24G=
ENST00000377432.7:c.244-313G= ENSP00000366650.3:n.244-313G=
NM_001164716.1:c.244-313G= NP_001158188.1:n.244-313G=
NM_005609.2:c.345+24G= NP_005600.1:n.345+24G=
NM_005609.3:c.345+24G= NP_005600.1:n.345+24G=
NM_005609.4:c.345+24G= MANE Select NP_005600.1:n.345+24G=