Canonical Allele Identifier: CA2243487578

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666019G= , CM000679.2:g.2666019G=	GRCh38
NC_000017.10:g.2569313G= , CM000679.1:g.2569313G=	GRCh37
NC_000017.9:g.2516063G=	NCBI36
NG_009799.1:g.77391G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.121G= MANE Select	ENSP00000380378.4:p.Glu41=
ENST00000674608.1:c.175G=	ENSP00000501976.1:p.Glu59=
ENST00000674717.1:c.-3-973G=	ENSP00000501931.1:n.-3-973G=
ENST00000675202.1:c.121G=	ENSP00000502843.1:p.Glu41=
ENST00000675331.1:c.121G=	ENSP00000502031.1:p.Glu41=
ENST00000675390.1:c.121G=	ENSP00000501969.1:p.Glu41=
ENST00000675430.1:n.348G=
ENST00000675621.1:c.121G=	ENSP00000502117.1:p.Glu41=
ENST00000675764.1:c.*75G=	ENSP00000502242.1:n.*75G=
ENST00000676077.1:c.-75G=	ENSP00000502507.1:n.-75G=
ENST00000676098.1:c.121G=	ENSP00000502735.1:p.Glu41=
ENST00000676188.1:c.121G=	ENSP00000502577.1:p.Glu41=
ENST00000676201.1:n.275G=
ENST00000676353.1:c.-75G=	ENSP00000502737.1:n.-75G=
ENST00000676456.1:n.226G=
ENST00000397195.9:c.121G=	ENSP00000380378.4:p.Glu41=
ENST00000570400.1:c.36G=	ENSP00000460258.1:p.Met12=
ENST00000572915.6:n.273-973G=
ENST00000574816.5:n.31-10295G=
ENST00000575477.5:n.623G=
ENST00000576586.5:c.121G=	ENSP00000461087.1:p.Glu41=
ENST00000609078.1:n.80G=
NM_000430.3:c.121G=	NP_000421.1:p.Glu41=
XM_011523901.1:c.175G=	XP_011522203.1:p.Glu59=
XM_011523902.1:c.175G=	XP_011522204.1:p.Glu59=
XM_011523903.1:c.175G=	XP_011522205.1:p.Glu59=
XM_011523904.1:c.175G=	XP_011522206.1:p.Glu59=
XM_011523901.2:c.175G=	XP_011522203.1:p.Glu59=
XM_011523902.3:c.175G=	XP_011522204.1:p.Glu59=
XM_011523903.2:c.175G=	XP_011522205.1:p.Glu59=
XM_017024701.1:c.121G=	XP_016880190.1:p.Glu41=
XM_017024702.2:c.-75G=	XP_016880191.1:n.-75G=
NM_000430.4:c.121G= MANE Select	NP_000421.1:p.Glu41=