Canonical Allele Identifier: CA8283127
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1381256
ClinVar RCV Id: RCV001886594
dbSNP Id: rs773195662
gnomAD v2: 17-2569368-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2666074T>C , CM000679.2:g.2666074T>C GRCh38
NC_000017.10:g.2569368T>C , CM000679.1:g.2569368T>C GRCh37
NC_000017.9:g.2516118T>C NCBI36
NG_009799.1:g.77446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.176T>C MANE Select ENSP00000380378.4:p.Ile59Thr
ENST00000674608.1:c.230T>C ENSP00000501976.1:p.Ile77Thr
ENST00000674717.1:c.-3-918T>C ENSP00000501931.1:n.-3-918T>C
ENST00000675202.1:c.176T>C ENSP00000502843.1:p.Ile59Thr
ENST00000675331.1:c.176T>C ENSP00000502031.1:p.Ile59Thr
ENST00000675390.1:c.176T>C ENSP00000501969.1:p.Ile59Thr
ENST00000675430.1:n.403T>C
ENST00000675621.1:c.176T>C ENSP00000502117.1:p.Ile59Thr
ENST00000675764.1:c.*130T>C ENSP00000502242.1:n.*130T>C
ENST00000676077.1:c.-20T>C ENSP00000502507.1:n.-20T>C
ENST00000676098.1:c.176T>C ENSP00000502735.1:p.Ile59Thr
ENST00000676188.1:c.176T>C ENSP00000502577.1:p.Ile59Thr
ENST00000676201.1:n.330T>C
ENST00000676353.1:c.-20T>C ENSP00000502737.1:n.-20T>C
ENST00000676456.1:n.281T>C
ENST00000397195.9:c.176T>C ENSP00000380378.4:p.Ile59Thr
ENST00000570400.1:c.*46T>C ENSP00000460258.1:n.*46T>C
ENST00000572915.6:n.273-918T>C
ENST00000574816.5:n.31-10240T>C
ENST00000575477.5:n.678T>C
ENST00000576586.5:c.176T>C ENSP00000461087.1:p.Ile59Thr
ENST00000609078.1:n.135T>C
NM_000430.3:c.176T>C NP_000421.1:p.Ile59Thr
XM_011523901.1:c.230T>C XP_011522203.1:p.Ile77Thr
XM_011523902.1:c.230T>C XP_011522204.1:p.Ile77Thr
XM_011523903.1:c.230T>C XP_011522205.1:p.Ile77Thr
XM_011523904.1:c.230T>C XP_011522206.1:p.Ile77Thr
XM_011523901.2:c.230T>C XP_011522203.1:p.Ile77Thr
XM_011523902.3:c.230T>C XP_011522204.1:p.Ile77Thr
XM_011523903.2:c.230T>C XP_011522205.1:p.Ile77Thr
XM_017024701.1:c.176T>C XP_016880190.1:p.Ile59Thr
XM_017024702.2:c.-20T>C XP_016880191.1:n.-20T>C
NM_000430.4:c.176T>C MANE Select NP_000421.1:p.Ile59Thr