Canonical Allele Identifier: CA397638363

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1197988240
• gnomAD v2: 17-2569334-G-A
• gnomAD v4: 17-2666040-G-A
• MyVariant Identifiers: chr17:g.2569334G>A (hg19) ; chr17:g.2666040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666040G>A , CM000679.2:g.2666040G>A	GRCh38
NC_000017.10:g.2569334G>A , CM000679.1:g.2569334G>A	GRCh37
NC_000017.9:g.2516084G>A	NCBI36
NG_009799.1:g.77412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.142G>A MANE Select	ENSP00000380378.4:p.Ala48Thr
ENST00000674608.1:c.196G>A	ENSP00000501976.1:p.Ala66Thr
ENST00000674717.1:c.-3-952G>A	ENSP00000501931.1:n.-3-952G>A
ENST00000675202.1:c.142G>A	ENSP00000502843.1:p.Ala48Thr
ENST00000675331.1:c.142G>A	ENSP00000502031.1:p.Ala48Thr
ENST00000675390.1:c.142G>A	ENSP00000501969.1:p.Ala48Thr
ENST00000675430.1:n.369G>A
ENST00000675621.1:c.142G>A	ENSP00000502117.1:p.Ala48Thr
ENST00000675764.1:c.*96G>A	ENSP00000502242.1:n.*96G>A
ENST00000676077.1:c.-54G>A	ENSP00000502507.1:n.-54G>A
ENST00000676098.1:c.142G>A	ENSP00000502735.1:p.Ala48Thr
ENST00000676188.1:c.142G>A	ENSP00000502577.1:p.Ala48Thr
ENST00000676201.1:n.296G>A
ENST00000676353.1:c.-54G>A	ENSP00000502737.1:n.-54G>A
ENST00000676456.1:n.247G>A
ENST00000397195.9:c.142G>A	ENSP00000380378.4:p.Ala48Thr
ENST00000570400.1:c.*12G>A	ENSP00000460258.1:n.*12G>A
ENST00000572915.6:n.273-952G>A
ENST00000574816.5:n.31-10274G>A
ENST00000575477.5:n.644G>A
ENST00000576586.5:c.142G>A	ENSP00000461087.1:p.Ala48Thr
ENST00000609078.1:n.101G>A
NM_000430.3:c.142G>A	NP_000421.1:p.Ala48Thr
XM_011523901.1:c.196G>A	XP_011522203.1:p.Ala66Thr
XM_011523902.1:c.196G>A	XP_011522204.1:p.Ala66Thr
XM_011523903.1:c.196G>A	XP_011522205.1:p.Ala66Thr
XM_011523904.1:c.196G>A	XP_011522206.1:p.Ala66Thr
XM_011523901.2:c.196G>A	XP_011522203.1:p.Ala66Thr
XM_011523902.3:c.196G>A	XP_011522204.1:p.Ala66Thr
XM_011523903.2:c.196G>A	XP_011522205.1:p.Ala66Thr
XM_017024701.1:c.142G>A	XP_016880190.1:p.Ala48Thr
XM_017024702.2:c.-54G>A	XP_016880191.1:n.-54G>A
NM_000430.4:c.142G>A MANE Select	NP_000421.1:p.Ala48Thr