Canonical Allele Identifier: CA2243488059

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069117797
• gnomAD v4: 17-2667233-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667233C>T , CM000679.2:g.2667233C>T	GRCh38
NC_000017.10:g.2570527C>T , CM000679.1:g.2570527C>T	GRCh37
NC_000017.9:g.2517277C>T	NCBI36
NG_009799.1:g.78605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.399+35C>T MANE Select	ENSP00000380378.4:n.399+35C>T
ENST00000674608.1:c.453+35C>T	ENSP00000501976.1:n.453+35C>T
ENST00000674717.1:c.204+35C>T	ENSP00000501931.1:n.204+35C>T
ENST00000675202.1:c.399+35C>T	ENSP00000502843.1:n.399+35C>T
ENST00000675331.1:c.399+35C>T	ENSP00000502031.1:n.399+35C>T
ENST00000675390.1:c.399+35C>T	ENSP00000501969.1:n.399+35C>T
ENST00000675430.1:n.626+35C>T
ENST00000675621.1:c.399+35C>T	ENSP00000502117.1:n.399+35C>T
ENST00000675764.1:c.*353+35C>T	ENSP00000502242.1:n.*353+35C>T
ENST00000676077.1:c.204+35C>T	ENSP00000502507.1:n.204+35C>T
ENST00000676098.1:c.399+35C>T	ENSP00000502735.1:n.399+35C>T
ENST00000676188.1:c.399+35C>T	ENSP00000502577.1:n.399+35C>T
ENST00000676201.1:n.553+35C>T
ENST00000676353.1:c.204+35C>T	ENSP00000502737.1:n.204+35C>T
ENST00000676456.1:n.504+35C>T
ENST00000397195.9:c.399+35C>T	ENSP00000380378.4:n.399+35C>T
ENST00000572915.6:n.479+35C>T
ENST00000574816.5:n.31-9081C>T
ENST00000609078.1:n.358+35C>T
NM_000430.3:c.399+35C>T	NP_000421.1:n.399+35C>T
XM_011523901.1:c.453+35C>T	XP_011522203.1:n.453+35C>T
XM_011523902.1:c.453+35C>T	XP_011522204.1:n.453+35C>T
XM_011523903.1:c.453+35C>T	XP_011522205.1:n.453+35C>T
XM_011523904.1:c.453+35C>T	XP_011522206.1:n.453+35C>T
XM_011523901.2:c.453+35C>T	XP_011522203.1:n.453+35C>T
XM_011523902.3:c.453+35C>T	XP_011522204.1:n.453+35C>T
XM_011523903.2:c.453+35C>T	XP_011522205.1:n.453+35C>T
XM_017024701.1:c.399+35C>T	XP_016880190.1:n.399+35C>T
XM_017024702.2:c.204+35C>T	XP_016880191.1:n.204+35C>T
NM_000430.4:c.399+35C>T MANE Select	NP_000421.1:n.399+35C>T