Canonical Allele Identifier: CA286907913

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1036610023
• gnomAD v4: 17-2674210-G-A
• MyVariant Identifiers: chr17:g.2577504G>A (hg19) ; chr17:g.2674210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674210G>A , CM000679.2:g.2674210G>A	GRCh38
NC_000017.10:g.2577504G>A , CM000679.1:g.2577504G>A	GRCh37
NC_000017.9:g.2524254G>A	NCBI36
NG_009799.1:g.85582G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.822G>A MANE Select	ENSP00000380378.4:p.Glu274=
ENST00000571495.2:n.1907G>A
ENST00000674608.1:c.876G>A	ENSP00000501976.1:p.Glu292=
ENST00000674717.1:c.627G>A	ENSP00000501931.1:p.Glu209=
ENST00000675202.1:c.822G>A	ENSP00000502843.1:p.Glu274=
ENST00000675331.1:c.822G>A	ENSP00000502031.1:p.Glu274=
ENST00000675390.1:c.822G>A	ENSP00000501969.1:p.Glu274=
ENST00000675574.1:n.1894G>A
ENST00000675621.1:c.822G>A	ENSP00000502117.1:p.Glu274=
ENST00000675764.1:c.*776G>A	ENSP00000502242.1:n.*776G>A
ENST00000676077.1:c.*140G>A	ENSP00000502507.1:n.*140G>A
ENST00000676098.1:c.822G>A	ENSP00000502735.1:p.Glu274=
ENST00000676188.1:c.822G>A	ENSP00000502577.1:p.Glu274=
ENST00000676353.1:c.627G>A	ENSP00000502737.1:p.Glu209=
ENST00000397193.7:n.630G>A
ENST00000397195.9:c.822G>A	ENSP00000380378.4:p.Glu274=
ENST00000571495.1:n.546G>A
ENST00000572915.6:n.676+114G>A
ENST00000574468.1:c.318G>A	ENSP00000460591.1:p.Glu106=
ENST00000574816.5:n.31-2104G>A
NM_000430.3:c.822G>A	NP_000421.1:p.Glu274=
XM_011523901.1:c.876G>A	XP_011522203.1:p.Glu292=
XM_011523902.1:c.876G>A	XP_011522204.1:p.Glu292=
XM_011523903.1:c.876G>A	XP_011522205.1:p.Glu292=
XM_011523901.2:c.876G>A	XP_011522203.1:p.Glu292=
XM_011523902.3:c.876G>A	XP_011522204.1:p.Glu292=
XM_011523903.2:c.876G>A	XP_011522205.1:p.Glu292=
XM_017024701.1:c.822G>A	XP_016880190.1:p.Glu274=
XM_017024702.2:c.627G>A	XP_016880191.1:p.Glu209=
NM_000430.4:c.822G>A MANE Select	NP_000421.1:p.Glu274=