Canonical Allele Identifier: CA254316
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8079
ClinVar RCV Id: RCV000008546
dbSNP Id: rs121434487

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2670247G>A , CM000679.2:g.2670247G>A GRCh38
NC_000017.10:g.2573541G>A , CM000679.1:g.2573541G>A GRCh37
NC_000017.9:g.2520291G>A NCBI36
NG_009799.1:g.81619G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.484G>A MANE Select ENSP00000380378.4:p.Gly162Ser
ENST00000674608.1:c.538G>A ENSP00000501976.1:p.Gly180Ser
ENST00000674717.1:c.289G>A ENSP00000501931.1:p.Gly97Ser
ENST00000675202.1:c.484G>A ENSP00000502843.1:p.Gly162Ser
ENST00000675331.1:c.484G>A ENSP00000502031.1:p.Gly162Ser
ENST00000675390.1:c.484G>A ENSP00000501969.1:p.Gly162Ser
ENST00000675430.1:n.711G>A
ENST00000675621.1:c.484G>A ENSP00000502117.1:p.Gly162Ser
ENST00000675764.1:c.*438G>A ENSP00000502242.1:n.*438G>A
ENST00000676077.1:c.289G>A ENSP00000502507.1:p.Gly97Ser
ENST00000676098.1:c.484G>A ENSP00000502735.1:p.Gly162Ser
ENST00000676188.1:c.484G>A ENSP00000502577.1:p.Gly162Ser
ENST00000676201.1:n.638G>A
ENST00000676353.1:c.289G>A ENSP00000502737.1:p.Gly97Ser
ENST00000676456.1:n.589G>A
ENST00000397193.7:n.292G>A
ENST00000397195.9:c.484G>A ENSP00000380378.4:p.Gly162Ser
ENST00000572915.6:n.480-28G>A
ENST00000574816.5:n.31-6067G>A
ENST00000609078.1:n.443G>A
NM_000430.3:c.484G>A NP_000421.1:p.Gly162Ser
XM_011523901.1:c.538G>A XP_011522203.1:p.Gly180Ser
XM_011523902.1:c.538G>A XP_011522204.1:p.Gly180Ser
XM_011523903.1:c.538G>A XP_011522205.1:p.Gly180Ser
XM_011523904.1:c.538G>A XP_011522206.1:p.Gly180Ser
XM_011523901.2:c.538G>A XP_011522203.1:p.Gly180Ser
XM_011523902.3:c.538G>A XP_011522204.1:p.Gly180Ser
XM_011523903.2:c.538G>A XP_011522205.1:p.Gly180Ser
XM_017024701.1:c.484G>A XP_016880190.1:p.Gly162Ser
XM_017024702.2:c.289G>A XP_016880191.1:p.Gly97Ser
NM_000430.4:c.484G>A MANE Select NP_000421.1:p.Gly162Ser