Canonical Allele Identifier: CA8283095
Gene: PAFAH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs770331294
gnomAD v2: 17-2568673-G-A
gnomAD v4: 17-2665379-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2665379G>A , CM000679.2:g.2665379G>A GRCh38
NC_000017.10:g.2568673G>A , CM000679.1:g.2568673G>A GRCh37
NC_000017.9:g.2515423G>A NCBI36
NG_009799.1:g.76751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.40G>A MANE Select ENSP00000380378.4:p.Ala14Thr
ENST00000674608.1:c.94G>A ENSP00000501976.1:p.Ala32Thr
ENST00000674717.1:c.-3-1613G>A ENSP00000501931.1:n.-3-1613G>A
ENST00000675202.1:c.40G>A ENSP00000502843.1:p.Ala14Thr
ENST00000675331.1:c.40G>A ENSP00000502031.1:p.Ala14Thr
ENST00000675390.1:c.40G>A ENSP00000501969.1:p.Ala14Thr
ENST00000675430.1:n.267G>A
ENST00000675621.1:c.40G>A ENSP00000502117.1:p.Ala14Thr
ENST00000675764.1:c.138G>A ENSP00000502242.1:p.Glu46=
ENST00000676077.1:c.-156G>A ENSP00000502507.1:n.-156G>A
ENST00000676098.1:c.40G>A ENSP00000502735.1:p.Ala14Thr
ENST00000676188.1:c.40G>A ENSP00000502577.1:p.Ala14Thr
ENST00000676201.1:n.272-637G>A
ENST00000676353.1:c.-78-637G>A ENSP00000502737.1:n.-78-637G>A
ENST00000676456.1:n.223-637G>A
ENST00000397195.9:c.40G>A ENSP00000380378.4:p.Ala14Thr
ENST00000570400.1:c.33-637G>A ENSP00000460258.1:n.33-637G>A
ENST00000572915.6:n.273-1613G>A
ENST00000574816.5:n.31-10935G>A
ENST00000575477.5:n.620-637G>A
ENST00000576586.5:c.40G>A ENSP00000461087.1:p.Ala14Thr
NM_000430.3:c.40G>A NP_000421.1:p.Ala14Thr
XM_011523901.1:c.94G>A XP_011522203.1:p.Ala32Thr
XM_011523902.1:c.94G>A XP_011522204.1:p.Ala32Thr
XM_011523903.1:c.94G>A XP_011522205.1:p.Ala32Thr
XM_011523904.1:c.94G>A XP_011522206.1:p.Ala32Thr
XM_011523901.2:c.94G>A XP_011522203.1:p.Ala32Thr
XM_011523902.3:c.94G>A XP_011522204.1:p.Ala32Thr
XM_011523903.2:c.94G>A XP_011522205.1:p.Ala32Thr
XM_017024701.1:c.40G>A XP_016880190.1:p.Ala14Thr
XM_017024702.2:c.-78-637G>A XP_016880191.1:n.-78-637G>A
NM_000430.4:c.40G>A MANE Select NP_000421.1:p.Ala14Thr