Canonical Allele Identifier: CA381175687

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753538-C-A
• MyVariant Identifiers: chr11:g.64521010C>A (hg19) ; chr11:g.64753538C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753538C>A , CM000673.2:g.64753538C>A	GRCh38
NC_000011.9:g.64521010C>A , CM000673.1:g.64521010C>A	GRCh37
NC_000011.8:g.64277586C>A	NCBI36
NG_013018.1:g.12178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1384G>T MANE Select	ENSP00000164139.3:p.Glu462Ter
ENST00000164139.3:c.1384G>T	ENSP00000164139.3:p.Glu462Ter
ENST00000377432.7:c.1120G>T	ENSP00000366650.3:p.Glu374Ter
NM_001164716.1:c.1120G>T	NP_001158188.1:p.Glu374Ter
NM_005609.2:c.1384G>T	NP_005600.1:p.Glu462Ter
NM_005609.3:c.1384G>T	NP_005600.1:p.Glu462Ter
NM_005609.4:c.1384G>T MANE Select	NP_005600.1:p.Glu462Ter