Canonical Allele Identifier: CA272356

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 159488
• ClinVar RCV Id: RCV000147004
• dbSNP Id: rs587784236
• MyVariant Identifiers: chr17:g.2583464C>G (hg19) ; chr17:g.2680170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2680170C>G , CM000679.2:g.2680170C>G	GRCh38
NC_000017.10:g.2583464C>G , CM000679.1:g.2583464C>G	GRCh37
NC_000017.9:g.2530214C>G	NCBI36
NG_009799.1:g.91542C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.1009C>G MANE Select	ENSP00000380378.4:p.His337Asp
ENST00000571495.2:n.2094C>G
ENST00000610190.2:n.561C>G
ENST00000674608.1:c.1063C>G	ENSP00000501976.1:p.His355Asp
ENST00000674717.1:c.814C>G	ENSP00000501931.1:p.His272Asp
ENST00000675084.1:n.263C>G
ENST00000675202.1:c.1009C>G	ENSP00000502843.1:p.His337Asp
ENST00000675331.1:c.1009C>G	ENSP00000502031.1:p.His337Asp
ENST00000675385.1:n.623C>G
ENST00000675390.1:c.1009C>G	ENSP00000501969.1:p.His337Asp
ENST00000675574.1:n.4064C>G
ENST00000675621.1:c.*86-1559C>G	ENSP00000502117.1:n.*86-1559C>G
ENST00000675764.1:c.*963C>G	ENSP00000502242.1:n.*963C>G
ENST00000676077.1:c.*327C>G	ENSP00000502507.1:n.*327C>G
ENST00000676098.1:c.1009C>G	ENSP00000502735.1:p.His337Asp
ENST00000676188.1:c.1009C>G	ENSP00000502577.1:p.His337Asp
ENST00000676353.1:c.814C>G	ENSP00000502737.1:p.His272Asp
ENST00000397193.7:n.817C>G
ENST00000397195.9:c.1009C>G	ENSP00000380378.4:p.His337Asp
ENST00000571495.1:n.733C>G
ENST00000572915.6:n.677-3418C>G
ENST00000574468.1:c.403C>G	ENSP00000460591.1:p.His135Asp
ENST00000574816.5:n.330C>G
ENST00000610190.1:n.484C>G
NM_000430.3:c.1009C>G	NP_000421.1:p.His337Asp
XM_011523901.1:c.1063C>G	XP_011522203.1:p.His355Asp
XM_011523902.1:c.1063C>G	XP_011522204.1:p.His355Asp
XM_011523903.1:c.1063C>G	XP_011522205.1:p.His355Asp
XM_011523901.2:c.1063C>G	XP_011522203.1:p.His355Asp
XM_011523902.3:c.1063C>G	XP_011522204.1:p.His355Asp
XM_011523903.2:c.1063C>G	XP_011522205.1:p.His355Asp
XM_017024701.1:c.1009C>G	XP_016880190.1:p.His337Asp
XM_017024702.2:c.814C>G	XP_016880191.1:p.His272Asp
NM_000430.4:c.1009C>G MANE Select	NP_000421.1:p.His337Asp