Canonical Allele Identifier: CA2243492505

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676542C= , CM000679.2:g.2676542C=	GRCh38
NC_000017.10:g.2579836C= , CM000679.1:g.2579836C=	GRCh37
NC_000017.9:g.2526586C=	NCBI36
NG_009799.1:g.87914C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.938C= MANE Select	ENSP00000380378.4:p.Ser313=
ENST00000571495.2:n.2023C=
ENST00000674608.1:c.992C=	ENSP00000501976.1:p.Ser331=
ENST00000674717.1:c.743C=	ENSP00000501931.1:p.Ser248=
ENST00000675084.1:n.192C=
ENST00000675202.1:c.938C=	ENSP00000502843.1:p.Ser313=
ENST00000675331.1:c.938C=	ENSP00000502031.1:p.Ser313=
ENST00000675385.1:n.552C=
ENST00000675390.1:c.938C=	ENSP00000501969.1:p.Ser313=
ENST00000675574.1:n.3993C=
ENST00000675621.1:c.938C=	ENSP00000502117.1:p.Ser313=
ENST00000675764.1:c.*892C=	ENSP00000502242.1:n.*892C=
ENST00000676077.1:c.*256C=	ENSP00000502507.1:n.*256C=
ENST00000676098.1:c.938C=	ENSP00000502735.1:p.Ser313=
ENST00000676188.1:c.938C=	ENSP00000502577.1:p.Ser313=
ENST00000676353.1:c.743C=	ENSP00000502737.1:p.Ser248=
ENST00000397193.7:n.746C=
ENST00000397195.9:c.938C=	ENSP00000380378.4:p.Ser313=
ENST00000571495.1:n.662C=
ENST00000572915.6:n.676+2446C=
ENST00000574468.1:c.396+2254C=	ENSP00000460591.1:n.396+2254C=
ENST00000574816.5:n.259C=
NM_000430.3:c.938C=	NP_000421.1:p.Ser313=
XM_011523901.1:c.992C=	XP_011522203.1:p.Ser331=
XM_011523902.1:c.992C=	XP_011522204.1:p.Ser331=
XM_011523903.1:c.992C=	XP_011522205.1:p.Ser331=
XM_011523901.2:c.992C=	XP_011522203.1:p.Ser331=
XM_011523902.3:c.992C=	XP_011522204.1:p.Ser331=
XM_011523903.2:c.992C=	XP_011522205.1:p.Ser331=
XM_017024701.1:c.938C=	XP_016880190.1:p.Ser313=
XM_017024702.2:c.743C=	XP_016880191.1:p.Ser248=
NM_000430.4:c.938C= MANE Select	NP_000421.1:p.Ser313=