Canonical Allele Identifier: CA8283289

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs755695745
• ExAC: 17:2579858 T / C
• gnomAD v2: 17-2579858-T-C
• gnomAD v4: 17-2676564-T-C
• MyVariant Identifiers: chr17:g.2579858T>C (hg19) ; chr17:g.2676564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676564T>C , CM000679.2:g.2676564T>C	GRCh38
NC_000017.10:g.2579858T>C , CM000679.1:g.2579858T>C	GRCh37
NC_000017.9:g.2526608T>C	NCBI36
NG_009799.1:g.87936T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.960T>C MANE Select	ENSP00000380378.4:p.Ile320=
ENST00000571495.2:n.2045T>C
ENST00000674608.1:c.1014T>C	ENSP00000501976.1:p.Ile338=
ENST00000674717.1:c.765T>C	ENSP00000501931.1:p.Ile255=
ENST00000675084.1:n.214T>C
ENST00000675202.1:c.960T>C	ENSP00000502843.1:p.Ile320=
ENST00000675331.1:c.960T>C	ENSP00000502031.1:p.Ile320=
ENST00000675385.1:n.574T>C
ENST00000675390.1:c.960T>C	ENSP00000501969.1:p.Ile320=
ENST00000675574.1:n.4015T>C
ENST00000675621.1:c.960T>C	ENSP00000502117.1:p.Ile320=
ENST00000675764.1:c.*914T>C	ENSP00000502242.1:n.*914T>C
ENST00000676077.1:c.*278T>C	ENSP00000502507.1:n.*278T>C
ENST00000676098.1:c.960T>C	ENSP00000502735.1:p.Ile320=
ENST00000676188.1:c.960T>C	ENSP00000502577.1:p.Ile320=
ENST00000676353.1:c.765T>C	ENSP00000502737.1:p.Ile255=
ENST00000397193.7:n.768T>C
ENST00000397195.9:c.960T>C	ENSP00000380378.4:p.Ile320=
ENST00000571495.1:n.684T>C
ENST00000572915.6:n.676+2468T>C
ENST00000574468.1:c.396+2276T>C	ENSP00000460591.1:n.396+2276T>C
ENST00000574816.5:n.281T>C
NM_000430.3:c.960T>C	NP_000421.1:p.Ile320=
XM_011523901.1:c.1014T>C	XP_011522203.1:p.Ile338=
XM_011523902.1:c.1014T>C	XP_011522204.1:p.Ile338=
XM_011523903.1:c.1014T>C	XP_011522205.1:p.Ile338=
XM_011523901.2:c.1014T>C	XP_011522203.1:p.Ile338=
XM_011523902.3:c.1014T>C	XP_011522204.1:p.Ile338=
XM_011523903.2:c.1014T>C	XP_011522205.1:p.Ile338=
XM_017024701.1:c.960T>C	XP_016880190.1:p.Ile320=
XM_017024702.2:c.765T>C	XP_016880191.1:p.Ile255=
NM_000430.4:c.960T>C MANE Select	NP_000421.1:p.Ile320=