Canonical Allele Identifier: CA381112722
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759775T>G , CM000673.2:g.64759775T>G GRCh38
NC_000011.9:g.64527247T>G , CM000673.1:g.64527247T>G GRCh37
NC_000011.8:g.64283823T>G NCBI36
NG_013018.1:g.5941A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.124A>C MANE Select ENSP00000164139.3:p.Lys42Gln
ENST00000164139.3:c.124A>C ENSP00000164139.3:p.Lys42Gln
ENST00000377432.7:c.124A>C ENSP00000366650.3:p.Lys42Gln
NM_001164716.1:c.124A>C NP_001158188.1:p.Lys42Gln
NM_005609.2:c.124A>C NP_005600.1:p.Lys42Gln
NM_005609.3:c.124A>C NP_005600.1:p.Lys42Gln
NM_005609.4:c.124A>C MANE Select NP_005600.1:p.Lys42Gln