Canonical Allele Identifier: CA272388
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159507
dbSNP Id: rs587784254

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2666061T>A , CM000679.2:g.2666061T>A GRCh38
NC_000017.10:g.2569355T>A , CM000679.1:g.2569355T>A GRCh37
NC_000017.9:g.2516105T>A NCBI36
NG_009799.1:g.77433T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.163T>A MANE Select ENSP00000380378.4:p.Trp55Arg
ENST00000674608.1:c.217T>A ENSP00000501976.1:p.Trp73Arg
ENST00000674717.1:c.-3-931T>A ENSP00000501931.1:n.-3-931T>A
ENST00000675202.1:c.163T>A ENSP00000502843.1:p.Trp55Arg
ENST00000675331.1:c.163T>A ENSP00000502031.1:p.Trp55Arg
ENST00000675390.1:c.163T>A ENSP00000501969.1:p.Trp55Arg
ENST00000675430.1:n.390T>A
ENST00000675621.1:c.163T>A ENSP00000502117.1:p.Trp55Arg
ENST00000675764.1:c.*117T>A ENSP00000502242.1:n.*117T>A
ENST00000676077.1:c.-33T>A ENSP00000502507.1:n.-33T>A
ENST00000676098.1:c.163T>A ENSP00000502735.1:p.Trp55Arg
ENST00000676188.1:c.163T>A ENSP00000502577.1:p.Trp55Arg
ENST00000676201.1:n.317T>A
ENST00000676353.1:c.-33T>A ENSP00000502737.1:n.-33T>A
ENST00000676456.1:n.268T>A
ENST00000397195.9:c.163T>A ENSP00000380378.4:p.Trp55Arg
ENST00000570400.1:c.*33T>A ENSP00000460258.1:n.*33T>A
ENST00000572915.6:n.273-931T>A
ENST00000574816.5:n.31-10253T>A
ENST00000575477.5:n.665T>A
ENST00000576586.5:c.163T>A ENSP00000461087.1:p.Trp55Arg
ENST00000609078.1:n.122T>A
NM_000430.3:c.163T>A NP_000421.1:p.Trp55Arg
XM_011523901.1:c.217T>A XP_011522203.1:p.Trp73Arg
XM_011523902.1:c.217T>A XP_011522204.1:p.Trp73Arg
XM_011523903.1:c.217T>A XP_011522205.1:p.Trp73Arg
XM_011523904.1:c.217T>A XP_011522206.1:p.Trp73Arg
XM_011523901.2:c.217T>A XP_011522203.1:p.Trp73Arg
XM_011523902.3:c.217T>A XP_011522204.1:p.Trp73Arg
XM_011523903.2:c.217T>A XP_011522205.1:p.Trp73Arg
XM_017024701.1:c.163T>A XP_016880190.1:p.Trp55Arg
XM_017024702.2:c.-33T>A XP_016880191.1:n.-33T>A
NM_000430.4:c.163T>A MANE Select NP_000421.1:p.Trp55Arg