Canonical Allele Identifier: CA272410
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159522
dbSNP Id: rs587784267

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2670193C>T , CM000679.2:g.2670193C>T GRCh38
NC_000017.10:g.2573487C>T , CM000679.1:g.2573487C>T GRCh37
NC_000017.9:g.2520237C>T NCBI36
NG_009799.1:g.81565C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.430C>T MANE Select ENSP00000380378.4:p.Arg144Ter
ENST00000674608.1:c.484C>T ENSP00000501976.1:p.Arg162Ter
ENST00000674717.1:c.235C>T ENSP00000501931.1:p.Arg79Ter
ENST00000675202.1:c.430C>T ENSP00000502843.1:p.Arg144Ter
ENST00000675331.1:c.430C>T ENSP00000502031.1:p.Arg144Ter
ENST00000675390.1:c.430C>T ENSP00000501969.1:p.Arg144Ter
ENST00000675430.1:n.657C>T
ENST00000675621.1:c.430C>T ENSP00000502117.1:p.Arg144Ter
ENST00000675764.1:c.*384C>T ENSP00000502242.1:n.*384C>T
ENST00000676077.1:c.235C>T ENSP00000502507.1:p.Arg79Ter
ENST00000676098.1:c.430C>T ENSP00000502735.1:p.Arg144Ter
ENST00000676188.1:c.430C>T ENSP00000502577.1:p.Arg144Ter
ENST00000676201.1:n.584C>T
ENST00000676353.1:c.235C>T ENSP00000502737.1:p.Arg79Ter
ENST00000676456.1:n.535C>T
ENST00000397193.7:n.238C>T
ENST00000397195.9:c.430C>T ENSP00000380378.4:p.Arg144Ter
ENST00000572915.6:n.480-82C>T
ENST00000574816.5:n.31-6121C>T
ENST00000609078.1:n.389C>T
NM_000430.3:c.430C>T NP_000421.1:p.Arg144Ter
XM_011523901.1:c.484C>T XP_011522203.1:p.Arg162Ter
XM_011523902.1:c.484C>T XP_011522204.1:p.Arg162Ter
XM_011523903.1:c.484C>T XP_011522205.1:p.Arg162Ter
XM_011523904.1:c.484C>T XP_011522206.1:p.Arg162Ter
XM_011523901.2:c.484C>T XP_011522203.1:p.Arg162Ter
XM_011523902.3:c.484C>T XP_011522204.1:p.Arg162Ter
XM_011523903.2:c.484C>T XP_011522205.1:p.Arg162Ter
XM_017024701.1:c.430C>T XP_016880190.1:p.Arg144Ter
XM_017024702.2:c.235C>T XP_016880191.1:p.Arg79Ter
NM_000430.4:c.430C>T MANE Select NP_000421.1:p.Arg144Ter