Canonical Allele Identifier: CA397638169

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665443-C-T
• MyVariant Identifiers: chr17:g.2568737C>T (hg19) ; chr17:g.2665443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665443C>T , CM000679.2:g.2665443C>T	GRCh38
NC_000017.10:g.2568737C>T , CM000679.1:g.2568737C>T	GRCh37
NC_000017.9:g.2515487C>T	NCBI36
NG_009799.1:g.76815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.104C>T MANE Select	ENSP00000380378.4:p.Ala35Val
ENST00000674608.1:c.158C>T	ENSP00000501976.1:p.Ala53Val
ENST00000674717.1:c.-3-1549C>T	ENSP00000501931.1:n.-3-1549C>T
ENST00000675202.1:c.104C>T	ENSP00000502843.1:p.Ala35Val
ENST00000675331.1:c.104C>T	ENSP00000502031.1:p.Ala35Val
ENST00000675390.1:c.104C>T	ENSP00000501969.1:p.Ala35Val
ENST00000675430.1:n.331C>T
ENST00000675621.1:c.104C>T	ENSP00000502117.1:p.Ala35Val
ENST00000675764.1:c.*58C>T	ENSP00000502242.1:n.*58C>T
ENST00000676077.1:c.-92C>T	ENSP00000502507.1:n.-92C>T
ENST00000676098.1:c.104C>T	ENSP00000502735.1:p.Ala35Val
ENST00000676188.1:c.104C>T	ENSP00000502577.1:p.Ala35Val
ENST00000676201.1:n.272-573C>T
ENST00000676353.1:c.-78-573C>T	ENSP00000502737.1:n.-78-573C>T
ENST00000676456.1:n.223-573C>T
ENST00000397195.9:c.104C>T	ENSP00000380378.4:p.Ala35Val
ENST00000570400.1:c.33-573C>T	ENSP00000460258.1:n.33-573C>T
ENST00000572915.6:n.273-1549C>T
ENST00000574816.5:n.31-10871C>T
ENST00000575477.5:n.620-573C>T
ENST00000576586.5:c.104C>T	ENSP00000461087.1:p.Ala35Val
ENST00000609078.1:n.63C>T
NM_000430.3:c.104C>T	NP_000421.1:p.Ala35Val
XM_011523901.1:c.158C>T	XP_011522203.1:p.Ala53Val
XM_011523902.1:c.158C>T	XP_011522204.1:p.Ala53Val
XM_011523903.1:c.158C>T	XP_011522205.1:p.Ala53Val
XM_011523904.1:c.158C>T	XP_011522206.1:p.Ala53Val
XM_011523901.2:c.158C>T	XP_011522203.1:p.Ala53Val
XM_011523902.3:c.158C>T	XP_011522204.1:p.Ala53Val
XM_011523903.2:c.158C>T	XP_011522205.1:p.Ala53Val
XM_017024701.1:c.104C>T	XP_016880190.1:p.Ala35Val
XM_017024702.2:c.-78-573C>T	XP_016880191.1:n.-78-573C>T
NM_000430.4:c.104C>T MANE Select	NP_000421.1:p.Ala35Val