Canonical Allele Identifier: CA381112886
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 3150216
ClinVar RCV Id: RCV004440639

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759800G>C , CM000673.2:g.64759800G>C GRCh38
NC_000011.9:g.64527272G>C , CM000673.1:g.64527272G>C GRCh37
NC_000011.8:g.64283848G>C NCBI36
NG_013018.1:g.5916C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.99C>G MANE Select ENSP00000164139.3:p.Asn33Lys
ENST00000164139.3:c.99C>G ENSP00000164139.3:p.Asn33Lys
ENST00000377432.7:c.99C>G ENSP00000366650.3:p.Asn33Lys
NM_001164716.1:c.99C>G NP_001158188.1:p.Asn33Lys
NM_005609.2:c.99C>G NP_005600.1:p.Asn33Lys
NM_005609.3:c.99C>G NP_005600.1:p.Asn33Lys
NM_005609.4:c.99C>G MANE Select NP_005600.1:p.Asn33Lys