Canonical Allele Identifier: CA13610188

Gene: PGAM5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132715293G>A , CM000674.2:g.132715293G>A	GRCh38
NC_000012.11:g.133291879G>A , CM000674.1:g.133291879G>A	GRCh37
NC_000012.10:g.131801952G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001170543.2:c.370+257G>A MANE Select	NP_001164014.1:n.370+257G>A
ENST00000498926.7:c.370+257G>A MANE Select	ENSP00000438465.1:n.370+257G>A
NM_001170543.1:c.370+257G>A	NP_001164014.1:n.370+257G>A
NM_001170544.1:c.370+257G>A	NP_001164015.1:n.370+257G>A
NM_001170544.2:c.370+257G>A	NP_001164015.1:n.370+257G>A
NM_138575.3:c.370+257G>A	NP_612642.2:n.370+257G>A
NM_138575.4:c.370+257G>A	NP_612642.2:n.370+257G>A
ENST00000317555.6:c.370+257G>A	ENSP00000321503.2:n.370+257G>A
ENST00000454808.2:c.-78+257G>A	ENSP00000409537.2:n.-78+257G>A
ENST00000498926.6:c.370+257G>A	ENSP00000438465.1:n.370+257G>A
ENST00000543955.5:c.-78+257G>A	ENSP00000440372.1:n.-78+257G>A
ENST00000704860.1:c.370+257G>A	ENSP00000516057.1:n.370+257G>A