Canonical Allele Identifier: CA2243488016

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667093G= , CM000679.2:g.2667093G=	GRCh38
NC_000017.10:g.2570387G= , CM000679.1:g.2570387G=	GRCh37
NC_000017.9:g.2517137G=	NCBI36
NG_009799.1:g.78465G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.294G= MANE Select	ENSP00000380378.4:p.Pro98=
ENST00000674608.1:c.348G=	ENSP00000501976.1:p.Pro116=
ENST00000674717.1:c.99G=	ENSP00000501931.1:p.Pro33=
ENST00000675202.1:c.294G=	ENSP00000502843.1:p.Pro98=
ENST00000675331.1:c.294G=	ENSP00000502031.1:p.Pro98=
ENST00000675390.1:c.294G=	ENSP00000501969.1:p.Pro98=
ENST00000675430.1:n.521G=
ENST00000675621.1:c.294G=	ENSP00000502117.1:p.Pro98=
ENST00000675764.1:c.*248G=	ENSP00000502242.1:n.*248G=
ENST00000676077.1:c.99G=	ENSP00000502507.1:p.Pro33=
ENST00000676098.1:c.294G=	ENSP00000502735.1:p.Pro98=
ENST00000676188.1:c.294G=	ENSP00000502577.1:p.Pro98=
ENST00000676201.1:n.448G=
ENST00000676353.1:c.99G=	ENSP00000502737.1:p.Pro33=
ENST00000676456.1:n.399G=
ENST00000397195.9:c.294G=	ENSP00000380378.4:p.Pro98=
ENST00000570400.1:c.*164G=	ENSP00000460258.1:n.*164G=
ENST00000572915.6:n.374G=
ENST00000574816.5:n.31-9221G=
ENST00000609078.1:n.253G=
NM_000430.3:c.294G=	NP_000421.1:p.Pro98=
XM_011523901.1:c.348G=	XP_011522203.1:p.Pro116=
XM_011523902.1:c.348G=	XP_011522204.1:p.Pro116=
XM_011523903.1:c.348G=	XP_011522205.1:p.Pro116=
XM_011523904.1:c.348G=	XP_011522206.1:p.Pro116=
XM_011523901.2:c.348G=	XP_011522203.1:p.Pro116=
XM_011523902.3:c.348G=	XP_011522204.1:p.Pro116=
XM_011523903.2:c.348G=	XP_011522205.1:p.Pro116=
XM_017024701.1:c.294G=	XP_016880190.1:p.Pro98=
XM_017024702.2:c.99G=	XP_016880191.1:p.Pro33=
NM_000430.4:c.294G= MANE Select	NP_000421.1:p.Pro98=