Canonical Allele Identifier: CA2243492502

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676538C= , CM000679.2:g.2676538C=	GRCh38
NC_000017.10:g.2579832C= , CM000679.1:g.2579832C=	GRCh37
NC_000017.9:g.2526582C=	NCBI36
NG_009799.1:g.87910C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.934C= MANE Select	ENSP00000380378.4:p.Leu312=
ENST00000571495.2:n.2019C=
ENST00000674608.1:c.988C=	ENSP00000501976.1:p.Leu330=
ENST00000674717.1:c.739C=	ENSP00000501931.1:p.Leu247=
ENST00000675084.1:n.188C=
ENST00000675202.1:c.934C=	ENSP00000502843.1:p.Leu312=
ENST00000675331.1:c.934C=	ENSP00000502031.1:p.Leu312=
ENST00000675385.1:n.548C=
ENST00000675390.1:c.934C=	ENSP00000501969.1:p.Leu312=
ENST00000675574.1:n.3989C=
ENST00000675621.1:c.934C=	ENSP00000502117.1:p.Leu312=
ENST00000675764.1:c.*888C=	ENSP00000502242.1:n.*888C=
ENST00000676077.1:c.*252C=	ENSP00000502507.1:n.*252C=
ENST00000676098.1:c.934C=	ENSP00000502735.1:p.Leu312=
ENST00000676188.1:c.934C=	ENSP00000502577.1:p.Leu312=
ENST00000676353.1:c.739C=	ENSP00000502737.1:p.Leu247=
ENST00000397193.7:n.742C=
ENST00000397195.9:c.934C=	ENSP00000380378.4:p.Leu312=
ENST00000571495.1:n.658C=
ENST00000572915.6:n.676+2442C=
ENST00000574468.1:c.396+2250C=	ENSP00000460591.1:n.396+2250C=
ENST00000574816.5:n.255C=
NM_000430.3:c.934C=	NP_000421.1:p.Leu312=
XM_011523901.1:c.988C=	XP_011522203.1:p.Leu330=
XM_011523902.1:c.988C=	XP_011522204.1:p.Leu330=
XM_011523903.1:c.988C=	XP_011522205.1:p.Leu330=
XM_011523901.2:c.988C=	XP_011522203.1:p.Leu330=
XM_011523902.3:c.988C=	XP_011522204.1:p.Leu330=
XM_011523903.2:c.988C=	XP_011522205.1:p.Leu330=
XM_017024701.1:c.934C=	XP_016880190.1:p.Leu312=
XM_017024702.2:c.739C=	XP_016880191.1:p.Leu247=
NM_000430.4:c.934C= MANE Select	NP_000421.1:p.Leu312=