Canonical Allele Identifier: CA387394201

Gene: PGAM5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132718038C>T , CM000674.2:g.132718038C>T	GRCh38
NC_000012.11:g.133294624C>T , CM000674.1:g.133294624C>T	GRCh37
NC_000012.10:g.131804697C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001170543.2:c.637C>T MANE Select	NP_001164014.1:p.His213Tyr
ENST00000498926.7:c.637C>T MANE Select	ENSP00000438465.1:p.His213Tyr
NM_001170543.1:c.637C>T	NP_001164014.1:p.His213Tyr
NM_001170544.1:c.634C>T	NP_001164015.1:p.His212Tyr
NM_001170544.2:c.634C>T	NP_001164015.1:p.His212Tyr
NM_138575.3:c.637C>T	NP_612642.2:p.His213Tyr
NM_138575.4:c.637C>T	NP_612642.2:p.His213Tyr
ENST00000317555.6:c.637C>T	ENSP00000321503.2:p.His213Tyr
ENST00000454808.2:c.190C>T	ENSP00000409537.2:p.His64Tyr
ENST00000498926.6:c.637C>T	ENSP00000438465.1:p.His213Tyr
ENST00000543955.5:c.190C>T	ENSP00000440372.1:p.His64Tyr
ENST00000704860.1:c.634C>T	ENSP00000516057.1:p.His212Tyr