Canonical Allele Identifier: CA497474114

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2674225-A-G
• MyVariant Identifiers: chr17:g.2577519A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674225A>G , CM000679.2:g.2674225A>G	GRCh38
NC_000017.10:g.2577519A>G , CM000679.1:g.2577519A>G	GRCh37
NC_000017.9:g.2524269A>G	NCBI36
NG_009799.1:g.85597A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.837A>G MANE Select	ENSP00000380378.4:p.Val279=
ENST00000571495.2:n.1922A>G
ENST00000674608.1:c.891A>G	ENSP00000501976.1:p.Val297=
ENST00000674717.1:c.642A>G	ENSP00000501931.1:p.Val214=
ENST00000675202.1:c.837A>G	ENSP00000502843.1:p.Val279=
ENST00000675331.1:c.837A>G	ENSP00000502031.1:p.Val279=
ENST00000675390.1:c.837A>G	ENSP00000501969.1:p.Val279=
ENST00000675574.1:n.1909A>G
ENST00000675621.1:c.837A>G	ENSP00000502117.1:p.Val279=
ENST00000675764.1:c.*791A>G	ENSP00000502242.1:n.*791A>G
ENST00000676077.1:c.*155A>G	ENSP00000502507.1:n.*155A>G
ENST00000676098.1:c.837A>G	ENSP00000502735.1:p.Val279=
ENST00000676188.1:c.837A>G	ENSP00000502577.1:p.Val279=
ENST00000676353.1:c.642A>G	ENSP00000502737.1:p.Val214=
ENST00000397193.7:n.645A>G
ENST00000397195.9:c.837A>G	ENSP00000380378.4:p.Val279=
ENST00000571495.1:n.561A>G
ENST00000572915.6:n.676+129A>G
ENST00000574468.1:c.333A>G	ENSP00000460591.1:p.Val111=
ENST00000574816.5:n.31-2089A>G
NM_000430.3:c.837A>G	NP_000421.1:p.Val279=
XM_011523901.1:c.891A>G	XP_011522203.1:p.Val297=
XM_011523902.1:c.891A>G	XP_011522204.1:p.Val297=
XM_011523903.1:c.891A>G	XP_011522205.1:p.Val297=
XM_011523901.2:c.891A>G	XP_011522203.1:p.Val297=
XM_011523902.3:c.891A>G	XP_011522204.1:p.Val297=
XM_011523903.2:c.891A>G	XP_011522205.1:p.Val297=
XM_017024701.1:c.837A>G	XP_016880190.1:p.Val279=
XM_017024702.2:c.642A>G	XP_016880191.1:p.Val214=
NM_000430.4:c.837A>G MANE Select	NP_000421.1:p.Val279=