Canonical Allele Identifier: CA254312
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8074
dbSNP Id: rs121434483

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2674205C>T , CM000679.2:g.2674205C>T GRCh38
NC_000017.10:g.2577499C>T , CM000679.1:g.2577499C>T GRCh37
NC_000017.9:g.2524249C>T NCBI36
NG_009799.1:g.85577C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.817C>T MANE Select ENSP00000380378.4:p.Arg273Ter
ENST00000571495.2:n.1902C>T
ENST00000674608.1:c.871C>T ENSP00000501976.1:p.Arg291Ter
ENST00000674717.1:c.622C>T ENSP00000501931.1:p.Arg208Ter
ENST00000675202.1:c.817C>T ENSP00000502843.1:p.Arg273Ter
ENST00000675331.1:c.817C>T ENSP00000502031.1:p.Arg273Ter
ENST00000675390.1:c.817C>T ENSP00000501969.1:p.Arg273Ter
ENST00000675574.1:n.1889C>T
ENST00000675621.1:c.817C>T ENSP00000502117.1:p.Arg273Ter
ENST00000675764.1:c.*771C>T ENSP00000502242.1:n.*771C>T
ENST00000676077.1:c.*135C>T ENSP00000502507.1:n.*135C>T
ENST00000676098.1:c.817C>T ENSP00000502735.1:p.Arg273Ter
ENST00000676188.1:c.817C>T ENSP00000502577.1:p.Arg273Ter
ENST00000676353.1:c.622C>T ENSP00000502737.1:p.Arg208Ter
ENST00000397193.7:n.625C>T
ENST00000397195.9:c.817C>T ENSP00000380378.4:p.Arg273Ter
ENST00000571495.1:n.541C>T
ENST00000572915.6:n.676+109C>T
ENST00000574468.1:c.313C>T ENSP00000460591.1:p.Arg105Ter
ENST00000574816.5:n.31-2109C>T
NM_000430.3:c.817C>T NP_000421.1:p.Arg273Ter
XM_011523901.1:c.871C>T XP_011522203.1:p.Arg291Ter
XM_011523902.1:c.871C>T XP_011522204.1:p.Arg291Ter
XM_011523903.1:c.871C>T XP_011522205.1:p.Arg291Ter
XM_011523901.2:c.871C>T XP_011522203.1:p.Arg291Ter
XM_011523902.3:c.871C>T XP_011522204.1:p.Arg291Ter
XM_011523903.2:c.871C>T XP_011522205.1:p.Arg291Ter
XM_017024701.1:c.817C>T XP_016880190.1:p.Arg273Ter
XM_017024702.2:c.622C>T XP_016880191.1:p.Arg208Ter
NM_000430.4:c.817C>T MANE Select NP_000421.1:p.Arg273Ter