Canonical Allele Identifier: CA10603585

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667136C>T , CM000679.2:g.2667136C>T	GRCh38
NC_000017.10:g.2570430C>T , CM000679.1:g.2570430C>T	GRCh37
NC_000017.9:g.2517180C>T	NCBI36
NG_009799.1:g.78508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.337C>T MANE Select	ENSP00000380378.4:p.Arg113Ter
ENST00000674608.1:c.391C>T	ENSP00000501976.1:p.Arg131Ter
ENST00000674717.1:c.142C>T	ENSP00000501931.1:p.Arg48Ter
ENST00000675202.1:c.337C>T	ENSP00000502843.1:p.Arg113Ter
ENST00000675331.1:c.337C>T	ENSP00000502031.1:p.Arg113Ter
ENST00000675390.1:c.337C>T	ENSP00000501969.1:p.Arg113Ter
ENST00000675430.1:n.564C>T
ENST00000675621.1:c.337C>T	ENSP00000502117.1:p.Arg113Ter
ENST00000675764.1:c.*291C>T	ENSP00000502242.1:n.*291C>T
ENST00000676077.1:c.142C>T	ENSP00000502507.1:p.Arg48Ter
ENST00000676098.1:c.337C>T	ENSP00000502735.1:p.Arg113Ter
ENST00000676188.1:c.337C>T	ENSP00000502577.1:p.Arg113Ter
ENST00000676201.1:n.491C>T
ENST00000676353.1:c.142C>T	ENSP00000502737.1:p.Arg48Ter
ENST00000676456.1:n.442C>T
ENST00000397195.9:c.337C>T	ENSP00000380378.4:p.Arg113Ter
ENST00000570400.1:c.*207C>T	ENSP00000460258.1:n.*207C>T
ENST00000572915.6:n.417C>T
ENST00000574816.5:n.31-9178C>T
ENST00000609078.1:n.296C>T
NM_000430.3:c.337C>T	NP_000421.1:p.Arg113Ter
XM_011523901.1:c.391C>T	XP_011522203.1:p.Arg131Ter
XM_011523902.1:c.391C>T	XP_011522204.1:p.Arg131Ter
XM_011523903.1:c.391C>T	XP_011522205.1:p.Arg131Ter
XM_011523904.1:c.391C>T	XP_011522206.1:p.Arg131Ter
XM_011523901.2:c.391C>T	XP_011522203.1:p.Arg131Ter
XM_011523902.3:c.391C>T	XP_011522204.1:p.Arg131Ter
XM_011523903.2:c.391C>T	XP_011522205.1:p.Arg131Ter
XM_017024701.1:c.337C>T	XP_016880190.1:p.Arg113Ter
XM_017024702.2:c.142C>T	XP_016880191.1:p.Arg48Ter
NM_000430.4:c.337C>T MANE Select	NP_000421.1:p.Arg113Ter