Canonical Allele Identifier: CA381112391
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759732A>C , CM000673.2:g.64759732A>C GRCh38
NC_000011.9:g.64527204A>C , CM000673.1:g.64527204A>C GRCh37
NC_000011.8:g.64283780A>C NCBI36
NG_013018.1:g.5984T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.167T>G MANE Select ENSP00000164139.3:p.Leu56Arg
ENST00000164139.3:c.167T>G ENSP00000164139.3:p.Leu56Arg
ENST00000377432.7:c.167T>G ENSP00000366650.3:p.Leu56Arg
NM_001164716.1:c.167T>G NP_001158188.1:p.Leu56Arg
NM_005609.2:c.167T>G NP_005600.1:p.Leu56Arg
NM_005609.3:c.167T>G NP_005600.1:p.Leu56Arg
NM_005609.4:c.167T>G MANE Select NP_005600.1:p.Leu56Arg