Canonical Allele Identifier: CA381165636
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747314T>C , CM000673.2:g.64747314T>C GRCh38
NC_000011.9:g.64514786T>C , CM000673.1:g.64514786T>C GRCh37
NC_000011.8:g.64271362T>C NCBI36
NG_007574.1:g.3143A>G , LRG_100:g.3143A>G
NG_013018.1:g.18402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2222A>G MANE Select ENSP00000164139.3:p.Gln741Arg
ENST00000164139.3:c.2222A>G ENSP00000164139.3:p.Gln741Arg
ENST00000377432.7:c.1958A>G ENSP00000366650.3:p.Gln653Arg
ENST00000483742.1:n.1575A>G
NM_001164716.1:c.1958A>G NP_001158188.1:p.Gln653Arg
NM_005609.2:c.2222A>G NP_005600.1:p.Gln741Arg
NM_005609.3:c.2222A>G NP_005600.1:p.Gln741Arg
NM_005609.4:c.2222A>G MANE Select NP_005600.1:p.Gln741Arg