Canonical Allele Identifier: CA497425287

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 2048877
• ClinVar RCV Id: RCV002909417
• MyVariant Identifiers: chr17:g.2573483T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2670189T>C , CM000679.2:g.2670189T>C	GRCh38
NC_000017.10:g.2573483T>C , CM000679.1:g.2573483T>C	GRCh37
NC_000017.9:g.2520233T>C	NCBI36
NG_009799.1:g.81561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.426T>C MANE Select	ENSP00000380378.4:p.Phe142=
ENST00000674608.1:c.480T>C	ENSP00000501976.1:p.Phe160=
ENST00000674717.1:c.231T>C	ENSP00000501931.1:p.Phe77=
ENST00000675202.1:c.426T>C	ENSP00000502843.1:p.Phe142=
ENST00000675331.1:c.426T>C	ENSP00000502031.1:p.Phe142=
ENST00000675390.1:c.426T>C	ENSP00000501969.1:p.Phe142=
ENST00000675430.1:n.653T>C
ENST00000675621.1:c.426T>C	ENSP00000502117.1:p.Phe142=
ENST00000675764.1:c.*380T>C	ENSP00000502242.1:n.*380T>C
ENST00000676077.1:c.231T>C	ENSP00000502507.1:p.Phe77=
ENST00000676098.1:c.426T>C	ENSP00000502735.1:p.Phe142=
ENST00000676188.1:c.426T>C	ENSP00000502577.1:p.Phe142=
ENST00000676201.1:n.580T>C
ENST00000676353.1:c.231T>C	ENSP00000502737.1:p.Phe77=
ENST00000676456.1:n.531T>C
ENST00000397193.7:n.234T>C
ENST00000397195.9:c.426T>C	ENSP00000380378.4:p.Phe142=
ENST00000572915.6:n.480-86T>C
ENST00000574816.5:n.31-6125T>C
ENST00000609078.1:n.385T>C
NM_000430.3:c.426T>C	NP_000421.1:p.Phe142=
XM_011523901.1:c.480T>C	XP_011522203.1:p.Phe160=
XM_011523902.1:c.480T>C	XP_011522204.1:p.Phe160=
XM_011523903.1:c.480T>C	XP_011522205.1:p.Phe160=
XM_011523904.1:c.480T>C	XP_011522206.1:p.Phe160=
XM_011523901.2:c.480T>C	XP_011522203.1:p.Phe160=
XM_011523902.3:c.480T>C	XP_011522204.1:p.Phe160=
XM_011523903.2:c.480T>C	XP_011522205.1:p.Phe160=
XM_017024701.1:c.426T>C	XP_016880190.1:p.Phe142=
XM_017024702.2:c.231T>C	XP_016880191.1:p.Phe77=
NM_000430.4:c.426T>C MANE Select	NP_000421.1:p.Phe142=