Canonical Allele Identifier: CA2243491393

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674110G= , CM000679.2:g.2674110G=	GRCh38
NC_000017.10:g.2577404G= , CM000679.1:g.2577404G=	GRCh37
NC_000017.9:g.2524154G=	NCBI36
NG_009799.1:g.85482G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.722G= MANE Select	ENSP00000380378.4:p.Arg241=
ENST00000571495.2:n.1807G=
ENST00000674608.1:c.776G=	ENSP00000501976.1:p.Arg259=
ENST00000674717.1:c.527G=	ENSP00000501931.1:p.Arg176=
ENST00000675202.1:c.722G=	ENSP00000502843.1:p.Arg241=
ENST00000675331.1:c.722G=	ENSP00000502031.1:p.Arg241=
ENST00000675390.1:c.722G=	ENSP00000501969.1:p.Arg241=
ENST00000675574.1:n.1794G=
ENST00000675621.1:c.722G=	ENSP00000502117.1:p.Arg241=
ENST00000675764.1:c.*676G=	ENSP00000502242.1:n.*676G=
ENST00000676077.1:c.*40G=	ENSP00000502507.1:n.*40G=
ENST00000676098.1:c.722G=	ENSP00000502735.1:p.Arg241=
ENST00000676188.1:c.722G=	ENSP00000502577.1:p.Arg241=
ENST00000676353.1:c.527G=	ENSP00000502737.1:p.Arg176=
ENST00000397193.7:n.530G=
ENST00000397195.9:c.722G=	ENSP00000380378.4:p.Arg241=
ENST00000571495.1:n.446G=
ENST00000572915.6:n.676+14G=
ENST00000574468.1:c.218G=	ENSP00000460591.1:p.Arg73=
ENST00000574816.5:n.31-2204G=
NM_000430.3:c.722G=	NP_000421.1:p.Arg241=
XM_011523901.1:c.776G=	XP_011522203.1:p.Arg259=
XM_011523902.1:c.776G=	XP_011522204.1:p.Arg259=
XM_011523903.1:c.776G=	XP_011522205.1:p.Arg259=
XM_011523904.1:c.*40G=	XP_011522206.1:n.*40G=
XM_011523901.2:c.776G=	XP_011522203.1:p.Arg259=
XM_011523902.3:c.776G=	XP_011522204.1:p.Arg259=
XM_011523903.2:c.776G=	XP_011522205.1:p.Arg259=
XM_017024701.1:c.722G=	XP_016880190.1:p.Arg241=
XM_017024702.2:c.527G=	XP_016880191.1:p.Arg176=
NM_000430.4:c.722G= MANE Select	NP_000421.1:p.Arg241=