Canonical Allele Identifier: CA2243478968

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2638260T= , CM000679.2:g.2638260T=	GRCh38
NC_000017.10:g.2541554T= , CM000679.1:g.2541554T=	GRCh37
NC_000017.9:g.2488304T=	NCBI36
NG_009799.1:g.49632T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.-29T= MANE Select	ENSP00000380378.4:n.-29T=
ENST00000674608.1:c.-29T=	ENSP00000501976.1:n.-29T=
ENST00000674717.1:c.-64T=	ENSP00000501931.1:n.-64T=
ENST00000675202.1:c.-29T=	ENSP00000502843.1:n.-29T=
ENST00000675331.1:c.-29T=	ENSP00000502031.1:n.-29T=
ENST00000675390.1:c.-29T=	ENSP00000501969.1:n.-29T=
ENST00000675430.1:n.199T=
ENST00000675621.1:c.-29T=	ENSP00000502117.1:n.-29T=
ENST00000675764.1:c.-29T=	ENSP00000502242.1:n.-29T=
ENST00000676077.1:c.-163-27112T=	ENSP00000502507.1:n.-163-27112T=
ENST00000676098.1:c.-29T=	ENSP00000502735.1:n.-29T=
ENST00000676188.1:c.-29T=	ENSP00000502577.1:n.-29T=
ENST00000676201.1:n.211T=
ENST00000676353.1:c.-139T=	ENSP00000502737.1:n.-139T=
ENST00000676456.1:n.162T=
ENST00000397195.9:c.-29T=	ENSP00000380378.4:n.-29T=
ENST00000570400.1:c.-29T=	ENSP00000460258.1:n.-29T=
ENST00000571289.1:n.201T=
ENST00000572915.6:n.212T=
ENST00000574816.5:n.30+28692T=
ENST00000575477.5:n.559T=
ENST00000576586.5:c.-29T=	ENSP00000461087.1:n.-29T=
NM_000430.3:c.-29T=	NP_000421.1:n.-29T=
XM_011523901.1:c.-29T=	XP_011522203.1:n.-29T=
XM_011523902.1:c.-29T=	XP_011522204.1:n.-29T=
XM_011523903.1:c.-29T=	XP_011522205.1:n.-29T=
XM_011523904.1:c.-29T=	XP_011522206.1:n.-29T=
XM_011523901.2:c.-29T=	XP_011522203.1:n.-29T=
XM_011523902.3:c.-29T=	XP_011522204.1:n.-29T=
XM_011523903.2:c.-29T=	XP_011522205.1:n.-29T=
XM_017024701.1:c.-29T=	XP_016880190.1:n.-29T=
XM_017024702.2:c.-139T=	XP_016880191.1:n.-139T=
NM_000430.4:c.-29T= MANE Select	NP_000421.1:n.-29T=