Canonical Allele Identifier: CA397639851

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 502295
• ClinVar RCV Id: RCV000591042
• dbSNP Id: rs1555526698
• MyVariant Identifiers: chr17:g.2573478G>A (hg19) ; chr17:g.2670184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2670184G>A , CM000679.2:g.2670184G>A	GRCh38
NC_000017.10:g.2573478G>A , CM000679.1:g.2573478G>A	GRCh37
NC_000017.9:g.2520228G>A	NCBI36
NG_009799.1:g.81556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.421G>A MANE Select	ENSP00000380378.4:p.Asp141Asn
ENST00000674608.1:c.475G>A	ENSP00000501976.1:p.Asp159Asn
ENST00000674717.1:c.226G>A	ENSP00000501931.1:p.Asp76Asn
ENST00000675202.1:c.421G>A	ENSP00000502843.1:p.Asp141Asn
ENST00000675331.1:c.421G>A	ENSP00000502031.1:p.Asp141Asn
ENST00000675390.1:c.421G>A	ENSP00000501969.1:p.Asp141Asn
ENST00000675430.1:n.648G>A
ENST00000675621.1:c.421G>A	ENSP00000502117.1:p.Asp141Asn
ENST00000675764.1:c.*375G>A	ENSP00000502242.1:n.*375G>A
ENST00000676077.1:c.226G>A	ENSP00000502507.1:p.Asp76Asn
ENST00000676098.1:c.421G>A	ENSP00000502735.1:p.Asp141Asn
ENST00000676188.1:c.421G>A	ENSP00000502577.1:p.Asp141Asn
ENST00000676201.1:n.575G>A
ENST00000676353.1:c.226G>A	ENSP00000502737.1:p.Asp76Asn
ENST00000676456.1:n.526G>A
ENST00000397193.7:n.229G>A
ENST00000397195.9:c.421G>A	ENSP00000380378.4:p.Asp141Asn
ENST00000572915.6:n.480-91G>A
ENST00000574816.5:n.31-6130G>A
ENST00000609078.1:n.380G>A
NM_000430.3:c.421G>A	NP_000421.1:p.Asp141Asn
XM_011523901.1:c.475G>A	XP_011522203.1:p.Asp159Asn
XM_011523902.1:c.475G>A	XP_011522204.1:p.Asp159Asn
XM_011523903.1:c.475G>A	XP_011522205.1:p.Asp159Asn
XM_011523904.1:c.475G>A	XP_011522206.1:p.Asp159Asn
XM_011523901.2:c.475G>A	XP_011522203.1:p.Asp159Asn
XM_011523902.3:c.475G>A	XP_011522204.1:p.Asp159Asn
XM_011523903.2:c.475G>A	XP_011522205.1:p.Asp159Asn
XM_017024701.1:c.421G>A	XP_016880190.1:p.Asp141Asn
XM_017024702.2:c.226G>A	XP_016880191.1:p.Asp76Asn
NM_000430.4:c.421G>A MANE Select	NP_000421.1:p.Asp141Asn