Canonical Allele Identifier: CA2243487277

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665397C= , CM000679.2:g.2665397C=	GRCh38
NC_000017.10:g.2568691C= , CM000679.1:g.2568691C=	GRCh37
NC_000017.9:g.2515441C=	NCBI36
NG_009799.1:g.76769C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.58C= MANE Select	ENSP00000380378.4:p.Arg20=
ENST00000674608.1:c.112C=	ENSP00000501976.1:p.Arg38=
ENST00000674717.1:c.-3-1595C=	ENSP00000501931.1:n.-3-1595C=
ENST00000675202.1:c.58C=	ENSP00000502843.1:p.Arg20=
ENST00000675331.1:c.58C=	ENSP00000502031.1:p.Arg20=
ENST00000675390.1:c.58C=	ENSP00000501969.1:p.Arg20=
ENST00000675430.1:n.285C=
ENST00000675621.1:c.58C=	ENSP00000502117.1:p.Arg20=
ENST00000675764.1:c.*12C=	ENSP00000502242.1:n.*12C=
ENST00000676077.1:c.-138C=	ENSP00000502507.1:n.-138C=
ENST00000676098.1:c.58C=	ENSP00000502735.1:p.Arg20=
ENST00000676188.1:c.58C=	ENSP00000502577.1:p.Arg20=
ENST00000676201.1:n.272-619C=
ENST00000676353.1:c.-78-619C=	ENSP00000502737.1:n.-78-619C=
ENST00000676456.1:n.223-619C=
ENST00000397195.9:c.58C=	ENSP00000380378.4:p.Arg20=
ENST00000570400.1:c.33-619C=	ENSP00000460258.1:n.33-619C=
ENST00000572915.6:n.273-1595C=
ENST00000574816.5:n.31-10917C=
ENST00000575477.5:n.620-619C=
ENST00000576586.5:c.58C=	ENSP00000461087.1:p.Arg20=
ENST00000609078.1:n.17C=
NM_000430.3:c.58C=	NP_000421.1:p.Arg20=
XM_011523901.1:c.112C=	XP_011522203.1:p.Arg38=
XM_011523902.1:c.112C=	XP_011522204.1:p.Arg38=
XM_011523903.1:c.112C=	XP_011522205.1:p.Arg38=
XM_011523904.1:c.112C=	XP_011522206.1:p.Arg38=
XM_011523901.2:c.112C=	XP_011522203.1:p.Arg38=
XM_011523902.3:c.112C=	XP_011522204.1:p.Arg38=
XM_011523903.2:c.112C=	XP_011522205.1:p.Arg38=
XM_017024701.1:c.58C=	XP_016880190.1:p.Arg20=
XM_017024702.2:c.-78-619C=	XP_016880191.1:n.-78-619C=
NM_000430.4:c.58C= MANE Select	NP_000421.1:p.Arg20=