Canonical Allele Identifier: CA381169234
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751429C>T , CM000673.2:g.64751429C>T GRCh38
NC_000011.9:g.64518901C>T , CM000673.1:g.64518901C>T GRCh37
NC_000011.8:g.64275477C>T NCBI36
NG_013018.1:g.14287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1865G>A MANE Select ENSP00000164139.3:p.Arg622Lys
ENST00000164139.3:c.1865G>A ENSP00000164139.3:p.Arg622Lys
ENST00000377432.7:c.1601G>A ENSP00000366650.3:p.Arg534Lys
ENST00000462303.1:n.189G>A
NM_001164716.1:c.1601G>A NP_001158188.1:p.Arg534Lys
NM_005609.2:c.1865G>A NP_005600.1:p.Arg622Lys
NM_005609.3:c.1865G>A NP_005600.1:p.Arg622Lys
NM_005609.4:c.1865G>A MANE Select NP_005600.1:p.Arg622Lys