Canonical Allele Identifier: CA381112071
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759693A>C , CM000673.2:g.64759693A>C GRCh38
NC_000011.9:g.64527165A>C , CM000673.1:g.64527165A>C GRCh37
NC_000011.8:g.64283741A>C NCBI36
NG_013018.1:g.6023T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.206T>G MANE Select ENSP00000164139.3:p.Ile69Ser
ENST00000164139.3:c.206T>G ENSP00000164139.3:p.Ile69Ser
ENST00000377432.7:c.206T>G ENSP00000366650.3:p.Ile69Ser
NM_001164716.1:c.206T>G NP_001158188.1:p.Ile69Ser
NM_005609.2:c.206T>G NP_005600.1:p.Ile69Ser
NM_005609.3:c.206T>G NP_005600.1:p.Ile69Ser
NM_005609.4:c.206T>G MANE Select NP_005600.1:p.Ile69Ser