Canonical Allele Identifier: CA1978929443
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759509T= , CM000673.2:g.64759509T= GRCh38
NC_000011.9:g.64526981T= , CM000673.1:g.64526981T= GRCh37
NC_000011.8:g.64283557T= NCBI36
NG_013018.1:g.6207A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.243+147A= MANE Select ENSP00000164139.3:n.243+147A=
ENST00000164139.3:c.243+147A= ENSP00000164139.3:n.243+147A=
ENST00000377432.7:c.243+147A= ENSP00000366650.3:n.243+147A=
NM_001164716.1:c.243+147A= NP_001158188.1:n.243+147A=
NM_005609.2:c.243+147A= NP_005600.1:n.243+147A=
NM_005609.3:c.243+147A= NP_005600.1:n.243+147A=
NM_005609.4:c.243+147A= MANE Select NP_005600.1:n.243+147A=