Canonical Allele Identifier: CA2243492507
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676553G= , CM000679.2:g.2676553G= GRCh38
NC_000017.10:g.2579847G= , CM000679.1:g.2579847G= GRCh37
NC_000017.9:g.2526597G= NCBI36
NG_009799.1:g.87925G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.949G= MANE Select ENSP00000380378.4:p.Asp317=
ENST00000571495.2:n.2034G=
ENST00000674608.1:c.1003G= ENSP00000501976.1:p.Asp335=
ENST00000674717.1:c.754G= ENSP00000501931.1:p.Asp252=
ENST00000675084.1:n.203G=
ENST00000675202.1:c.949G= ENSP00000502843.1:p.Asp317=
ENST00000675331.1:c.949G= ENSP00000502031.1:p.Asp317=
ENST00000675385.1:n.563G=
ENST00000675390.1:c.949G= ENSP00000501969.1:p.Asp317=
ENST00000675574.1:n.4004G=
ENST00000675621.1:c.949G= ENSP00000502117.1:p.Asp317=
ENST00000675764.1:c.*903G= ENSP00000502242.1:n.*903G=
ENST00000676077.1:c.*267G= ENSP00000502507.1:n.*267G=
ENST00000676098.1:c.949G= ENSP00000502735.1:p.Asp317=
ENST00000676188.1:c.949G= ENSP00000502577.1:p.Asp317=
ENST00000676353.1:c.754G= ENSP00000502737.1:p.Asp252=
ENST00000397193.7:n.757G=
ENST00000397195.9:c.949G= ENSP00000380378.4:p.Asp317=
ENST00000571495.1:n.673G=
ENST00000572915.6:n.676+2457G=
ENST00000574468.1:c.396+2265G= ENSP00000460591.1:n.396+2265G=
ENST00000574816.5:n.270G=
NM_000430.3:c.949G= NP_000421.1:p.Asp317=
XM_011523901.1:c.1003G= XP_011522203.1:p.Asp335=
XM_011523902.1:c.1003G= XP_011522204.1:p.Asp335=
XM_011523903.1:c.1003G= XP_011522205.1:p.Asp335=
XM_011523901.2:c.1003G= XP_011522203.1:p.Asp335=
XM_011523902.3:c.1003G= XP_011522204.1:p.Asp335=
XM_011523903.2:c.1003G= XP_011522205.1:p.Asp335=
XM_017024701.1:c.949G= XP_016880190.1:p.Asp317=
XM_017024702.2:c.754G= XP_016880191.1:p.Asp252=
NM_000430.4:c.949G= MANE Select NP_000421.1:p.Asp317=