Canonical Allele Identifier: CA272432

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 159538
• ClinVar RCV Id: RCV000147054
• dbSNP Id: rs587784281
• MyVariant Identifiers: chr17:g.2576051G>A (hg19) ; chr17:g.2672757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672757G>A , CM000679.2:g.2672757G>A	GRCh38
NC_000017.10:g.2576051G>A , CM000679.1:g.2576051G>A	GRCh37
NC_000017.9:g.2522801G>A	NCBI36
NG_009799.1:g.84129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.671G>A MANE Select	ENSP00000380378.4:p.Gly224Asp
ENST00000571495.2:n.454G>A
ENST00000674608.1:c.725G>A	ENSP00000501976.1:p.Gly242Asp
ENST00000674717.1:c.476G>A	ENSP00000501931.1:p.Gly159Asp
ENST00000675202.1:c.671G>A	ENSP00000502843.1:p.Gly224Asp
ENST00000675331.1:c.671G>A	ENSP00000502031.1:p.Gly224Asp
ENST00000675390.1:c.671G>A	ENSP00000501969.1:p.Gly224Asp
ENST00000675574.1:n.441G>A
ENST00000675621.1:c.671G>A	ENSP00000502117.1:p.Gly224Asp
ENST00000675764.1:c.*625G>A	ENSP00000502242.1:n.*625G>A
ENST00000676077.1:c.374-1303G>A	ENSP00000502507.1:n.374-1303G>A
ENST00000676098.1:c.671G>A	ENSP00000502735.1:p.Gly224Asp
ENST00000676188.1:c.671G>A	ENSP00000502577.1:p.Gly224Asp
ENST00000676353.1:c.476G>A	ENSP00000502737.1:p.Gly159Asp
ENST00000397193.7:n.479G>A
ENST00000397195.9:c.671G>A	ENSP00000380378.4:p.Gly224Asp
ENST00000572915.6:n.639G>A
ENST00000574468.1:c.167G>A	ENSP00000460591.1:p.Gly56Asp
ENST00000574816.5:n.31-3557G>A
NM_000430.3:c.671G>A	NP_000421.1:p.Gly224Asp
XM_011523901.1:c.725G>A	XP_011522203.1:p.Gly242Asp
XM_011523902.1:c.725G>A	XP_011522204.1:p.Gly242Asp
XM_011523903.1:c.725G>A	XP_011522205.1:p.Gly242Asp
XM_011523904.1:c.623-1303G>A	XP_011522206.1:n.623-1303G>A
XM_011523901.2:c.725G>A	XP_011522203.1:p.Gly242Asp
XM_011523902.3:c.725G>A	XP_011522204.1:p.Gly242Asp
XM_011523903.2:c.725G>A	XP_011522205.1:p.Gly242Asp
XM_017024701.1:c.671G>A	XP_016880190.1:p.Gly224Asp
XM_017024702.2:c.476G>A	XP_016880191.1:p.Gly159Asp
NM_000430.4:c.671G>A MANE Select	NP_000421.1:p.Gly224Asp