Canonical Allele Identifier: CA624510395

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1230680313
• gnomAD v2: 17-2579603-C-T
• gnomAD v3: 17-2676309-C-T
• gnomAD v4: 17-2676309-C-T
• MyVariant Identifiers: chr17:g.2579603C>T (hg19) ; chr17:g.2676309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676309C>T , CM000679.2:g.2676309C>T	GRCh38
NC_000017.10:g.2579603C>T , CM000679.1:g.2579603C>T	GRCh37
NC_000017.9:g.2526353C>T	NCBI36
NG_009799.1:g.87681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-196C>T MANE Select	ENSP00000380378.4:n.901-196C>T
ENST00000571495.2:n.1986-196C>T
ENST00000674608.1:c.955-196C>T	ENSP00000501976.1:n.955-196C>T
ENST00000674717.1:c.706-196C>T	ENSP00000501931.1:n.706-196C>T
ENST00000675202.1:c.901-196C>T	ENSP00000502843.1:n.901-196C>T
ENST00000675331.1:c.901-196C>T	ENSP00000502031.1:n.901-196C>T
ENST00000675385.1:n.324-5C>T
ENST00000675390.1:c.901-196C>T	ENSP00000501969.1:n.901-196C>T
ENST00000675574.1:n.3760C>T
ENST00000675621.1:c.901-196C>T	ENSP00000502117.1:n.901-196C>T
ENST00000675764.1:c.*855-196C>T	ENSP00000502242.1:n.*855-196C>T
ENST00000676077.1:c.*219-196C>T	ENSP00000502507.1:n.*219-196C>T
ENST00000676098.1:c.901-196C>T	ENSP00000502735.1:n.901-196C>T
ENST00000676188.1:c.901-196C>T	ENSP00000502577.1:n.901-196C>T
ENST00000676353.1:c.706-196C>T	ENSP00000502737.1:n.706-196C>T
ENST00000397193.7:n.709-196C>T
ENST00000397195.9:c.901-196C>T	ENSP00000380378.4:n.901-196C>T
ENST00000571495.1:n.625-196C>T
ENST00000572915.6:n.676+2213C>T
ENST00000574468.1:c.396+2021C>T	ENSP00000460591.1:n.396+2021C>T
ENST00000574816.5:n.31-5C>T
NM_000430.3:c.901-196C>T	NP_000421.1:n.901-196C>T
XM_011523901.1:c.955-196C>T	XP_011522203.1:n.955-196C>T
XM_011523902.1:c.955-196C>T	XP_011522204.1:n.955-196C>T
XM_011523903.1:c.955-196C>T	XP_011522205.1:n.955-196C>T
XM_011523901.2:c.955-196C>T	XP_011522203.1:n.955-196C>T
XM_011523902.3:c.955-196C>T	XP_011522204.1:n.955-196C>T
XM_011523903.2:c.955-196C>T	XP_011522205.1:n.955-196C>T
XM_017024701.1:c.901-196C>T	XP_016880190.1:n.901-196C>T
XM_017024702.2:c.706-196C>T	XP_016880191.1:n.706-196C>T
NM_000430.4:c.901-196C>T MANE Select	NP_000421.1:n.901-196C>T