Canonical Allele Identifier: CA474959202
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64521008C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753536C>T , CM000673.2:g.64753536C>T GRCh38
NC_000011.9:g.64521008C>T , CM000673.1:g.64521008C>T GRCh37
NC_000011.8:g.64277584C>T NCBI36
NG_013018.1:g.12180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1386G>A MANE Select ENSP00000164139.3:p.Glu462=
ENST00000164139.3:c.1386G>A ENSP00000164139.3:p.Glu462=
ENST00000377432.7:c.1122G>A ENSP00000366650.3:p.Glu374=
NM_001164716.1:c.1122G>A NP_001158188.1:p.Glu374=
NM_005609.2:c.1386G>A NP_005600.1:p.Glu462=
NM_005609.3:c.1386G>A NP_005600.1:p.Glu462=
NM_005609.4:c.1386G>A MANE Select NP_005600.1:p.Glu462=