Canonical Allele Identifier: CA246331062

Gene: PGAM5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132720469A>G , CM000674.2:g.132720469A>G	GRCh38
NC_000012.11:g.133297055A>G , CM000674.1:g.133297055A>G	GRCh37
NC_000012.10:g.131807128A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704860.1:c.717-209A>G	ENSP00000516057.1:n.717-209A>G
ENST00000498926.7:c.720-209A>G MANE Select	ENSP00000438465.1:n.720-209A>G
ENST00000454808.2:c.273-209A>G	ENSP00000409537.2:n.273-209A>G
ENST00000498926.6:c.720-209A>G	ENSP00000438465.1:n.720-209A>G
ENST00000543955.5:c.273-209A>G	ENSP00000440372.1:n.273-209A>G
NM_001170543.1:c.720-209A>G	NP_001164014.1:n.720-209A>G
NM_001170544.1:c.717-209A>G	NP_001164015.1:n.717-209A>G
NM_001170543.2:c.720-209A>G MANE Select	NP_001164014.1:n.720-209A>G
NM_001170544.2:c.717-209A>G	NP_001164015.1:n.717-209A>G