Canonical Allele Identifier: CA381169323
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751442T>C , CM000673.2:g.64751442T>C GRCh38
NC_000011.9:g.64518914T>C , CM000673.1:g.64518914T>C GRCh37
NC_000011.8:g.64275490T>C NCBI36
NG_013018.1:g.14274A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1852A>G MANE Select ENSP00000164139.3:p.Lys618Glu
ENST00000164139.3:c.1852A>G ENSP00000164139.3:p.Lys618Glu
ENST00000377432.7:c.1588A>G ENSP00000366650.3:p.Lys530Glu
ENST00000462303.1:n.176A>G
NM_001164716.1:c.1588A>G NP_001158188.1:p.Lys530Glu
NM_005609.2:c.1852A>G NP_005600.1:p.Lys618Glu
NM_005609.3:c.1852A>G NP_005600.1:p.Lys618Glu
NM_005609.4:c.1852A>G MANE Select NP_005600.1:p.Lys618Glu