Canonical Allele Identifier: CA272449
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159548
ClinVar RCV Id: RCV000147065
dbSNP Id: rs587784289
MyVariant Identifiers: chr17:g.2577533G>A (hg19) chr17:g.2674239G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2674239G>A , CM000679.2:g.2674239G>A GRCh38
NC_000017.10:g.2577533G>A , CM000679.1:g.2577533G>A GRCh37
NC_000017.9:g.2524283G>A NCBI36
NG_009799.1:g.85611G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.851G>A MANE Select ENSP00000380378.4:p.Trp284Ter
ENST00000571495.2:n.1936G>A
ENST00000674608.1:c.905G>A ENSP00000501976.1:p.Trp302Ter
ENST00000674717.1:c.656G>A ENSP00000501931.1:p.Trp219Ter
ENST00000675202.1:c.851G>A ENSP00000502843.1:p.Trp284Ter
ENST00000675331.1:c.851G>A ENSP00000502031.1:p.Trp284Ter
ENST00000675390.1:c.851G>A ENSP00000501969.1:p.Trp284Ter
ENST00000675574.1:n.1923G>A
ENST00000675621.1:c.851G>A ENSP00000502117.1:p.Trp284Ter
ENST00000675764.1:c.*805G>A ENSP00000502242.1:n.*805G>A
ENST00000676077.1:c.*169G>A ENSP00000502507.1:n.*169G>A
ENST00000676098.1:c.851G>A ENSP00000502735.1:p.Trp284Ter
ENST00000676188.1:c.851G>A ENSP00000502577.1:p.Trp284Ter
ENST00000676353.1:c.656G>A ENSP00000502737.1:p.Trp219Ter
ENST00000397193.7:n.659G>A
ENST00000397195.9:c.851G>A ENSP00000380378.4:p.Trp284Ter
ENST00000571495.1:n.575G>A
ENST00000572915.6:n.676+143G>A
ENST00000574468.1:c.347G>A ENSP00000460591.1:p.Trp116Ter
ENST00000574816.5:n.31-2075G>A
NM_000430.3:c.851G>A NP_000421.1:p.Trp284Ter
XM_011523901.1:c.905G>A XP_011522203.1:p.Trp302Ter
XM_011523902.1:c.905G>A XP_011522204.1:p.Trp302Ter
XM_011523903.1:c.905G>A XP_011522205.1:p.Trp302Ter
XM_011523901.2:c.905G>A XP_011522203.1:p.Trp302Ter
XM_011523902.3:c.905G>A XP_011522204.1:p.Trp302Ter
XM_011523903.2:c.905G>A XP_011522205.1:p.Trp302Ter
XM_017024701.1:c.851G>A XP_016880190.1:p.Trp284Ter
XM_017024702.2:c.656G>A XP_016880191.1:p.Trp219Ter
NM_000430.4:c.851G>A MANE Select NP_000421.1:p.Trp284Ter
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