Canonical Allele Identifier: CA1978928498
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758583T= , CM000673.2:g.64758583T= GRCh38
NC_000011.9:g.64526055T= , CM000673.1:g.64526055T= GRCh37
NC_000011.8:g.64282631T= NCBI36
NG_013018.1:g.7133A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.345+20A= MANE Select ENSP00000164139.3:n.345+20A=
ENST00000164139.3:c.345+20A= ENSP00000164139.3:n.345+20A=
ENST00000377432.7:c.244-317A= ENSP00000366650.3:n.244-317A=
NM_001164716.1:c.244-317A= NP_001158188.1:n.244-317A=
NM_005609.2:c.345+20A= NP_005600.1:n.345+20A=
NM_005609.3:c.345+20A= NP_005600.1:n.345+20A=
NM_005609.4:c.345+20A= MANE Select NP_005600.1:n.345+20A=