Canonical Allele Identifier: CA2243490713

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672747G= , CM000679.2:g.2672747G=	GRCh38
NC_000017.10:g.2576041G= , CM000679.1:g.2576041G=	GRCh37
NC_000017.9:g.2522791G=	NCBI36
NG_009799.1:g.84119G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.661G= MANE Select	ENSP00000380378.4:p.Val221=
ENST00000571495.2:n.444G=
ENST00000674608.1:c.715G=	ENSP00000501976.1:p.Val239=
ENST00000674717.1:c.466G=	ENSP00000501931.1:p.Val156=
ENST00000675202.1:c.661G=	ENSP00000502843.1:p.Val221=
ENST00000675331.1:c.661G=	ENSP00000502031.1:p.Val221=
ENST00000675390.1:c.661G=	ENSP00000501969.1:p.Val221=
ENST00000675574.1:n.431G=
ENST00000675621.1:c.661G=	ENSP00000502117.1:p.Val221=
ENST00000675764.1:c.*615G=	ENSP00000502242.1:n.*615G=
ENST00000676077.1:c.374-1313G=	ENSP00000502507.1:n.374-1313G=
ENST00000676098.1:c.661G=	ENSP00000502735.1:p.Val221=
ENST00000676188.1:c.661G=	ENSP00000502577.1:p.Val221=
ENST00000676353.1:c.466G=	ENSP00000502737.1:p.Val156=
ENST00000397193.7:n.469G=
ENST00000397195.9:c.661G=	ENSP00000380378.4:p.Val221=
ENST00000572915.6:n.629G=
ENST00000574468.1:c.157G=	ENSP00000460591.1:p.Val53=
ENST00000574816.5:n.31-3567G=
NM_000430.3:c.661G=	NP_000421.1:p.Val221=
XM_011523901.1:c.715G=	XP_011522203.1:p.Val239=
XM_011523902.1:c.715G=	XP_011522204.1:p.Val239=
XM_011523903.1:c.715G=	XP_011522205.1:p.Val239=
XM_011523904.1:c.623-1313G=	XP_011522206.1:n.623-1313G=
XM_011523901.2:c.715G=	XP_011522203.1:p.Val239=
XM_011523902.3:c.715G=	XP_011522204.1:p.Val239=
XM_011523903.2:c.715G=	XP_011522205.1:p.Val239=
XM_017024701.1:c.661G=	XP_016880190.1:p.Val221=
XM_017024702.2:c.466G=	XP_016880191.1:p.Val156=
NM_000430.4:c.661G= MANE Select	NP_000421.1:p.Val221=