Canonical Allele Identifier: CA2243487466
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2665799G= , CM000679.2:g.2665799G= GRCh38
NC_000017.10:g.2569093G= , CM000679.1:g.2569093G= GRCh37
NC_000017.9:g.2515843G= NCBI36
NG_009799.1:g.77171G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.118-217G= MANE Select ENSP00000380378.4:n.118-217G=
ENST00000674608.1:c.172-217G= ENSP00000501976.1:n.172-217G=
ENST00000674717.1:c.-3-1193G= ENSP00000501931.1:n.-3-1193G=
ENST00000675202.1:c.118-217G= ENSP00000502843.1:n.118-217G=
ENST00000675331.1:c.118-217G= ENSP00000502031.1:n.118-217G=
ENST00000675390.1:c.118-217G= ENSP00000501969.1:n.118-217G=
ENST00000675430.1:n.345-217G=
ENST00000675621.1:c.118-217G= ENSP00000502117.1:n.118-217G=
ENST00000675764.1:c.*72-217G= ENSP00000502242.1:n.*72-217G=
ENST00000676077.1:c.-78-217G= ENSP00000502507.1:n.-78-217G=
ENST00000676098.1:c.118-217G= ENSP00000502735.1:n.118-217G=
ENST00000676188.1:c.118-217G= ENSP00000502577.1:n.118-217G=
ENST00000676201.1:n.272-217G=
ENST00000676353.1:c.-78-217G= ENSP00000502737.1:n.-78-217G=
ENST00000676456.1:n.223-217G=
ENST00000397195.9:c.118-217G= ENSP00000380378.4:n.118-217G=
ENST00000570400.1:c.33-217G= ENSP00000460258.1:n.33-217G=
ENST00000572915.6:n.273-1193G=
ENST00000574816.5:n.31-10515G=
ENST00000575477.5:n.620-217G=
ENST00000576586.5:c.118-217G= ENSP00000461087.1:n.118-217G=
ENST00000609078.1:n.77-217G=
NM_000430.3:c.118-217G= NP_000421.1:n.118-217G=
XM_011523901.1:c.172-217G= XP_011522203.1:n.172-217G=
XM_011523902.1:c.172-217G= XP_011522204.1:n.172-217G=
XM_011523903.1:c.172-217G= XP_011522205.1:n.172-217G=
XM_011523904.1:c.172-217G= XP_011522206.1:n.172-217G=
XM_011523901.2:c.172-217G= XP_011522203.1:n.172-217G=
XM_011523902.3:c.172-217G= XP_011522204.1:n.172-217G=
XM_011523903.2:c.172-217G= XP_011522205.1:n.172-217G=
XM_017024701.1:c.118-217G= XP_016880190.1:n.118-217G=
XM_017024702.2:c.-78-217G= XP_016880191.1:n.-78-217G=
NM_000430.4:c.118-217G= MANE Select NP_000421.1:n.118-217G=