Canonical Allele Identifier: CA8283100

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs767670214
• ExAC: 17:2568745 G / T
• gnomAD v2: 17-2568745-G-T
• gnomAD v4: 17-2665451-G-T
• MyVariant Identifiers: chr17:g.2568745G>T (hg19) ; chr17:g.2665451G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665451G>T , CM000679.2:g.2665451G>T	GRCh38
NC_000017.10:g.2568745G>T , CM000679.1:g.2568745G>T	GRCh37
NC_000017.9:g.2515495G>T	NCBI36
NG_009799.1:g.76823G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.112G>T MANE Select	ENSP00000380378.4:p.Asp38Tyr
ENST00000674608.1:c.166G>T	ENSP00000501976.1:p.Asp56Tyr
ENST00000674717.1:c.-3-1541G>T	ENSP00000501931.1:n.-3-1541G>T
ENST00000675202.1:c.112G>T	ENSP00000502843.1:p.Asp38Tyr
ENST00000675331.1:c.112G>T	ENSP00000502031.1:p.Asp38Tyr
ENST00000675390.1:c.112G>T	ENSP00000501969.1:p.Asp38Tyr
ENST00000675430.1:n.339G>T
ENST00000675621.1:c.112G>T	ENSP00000502117.1:p.Asp38Tyr
ENST00000675764.1:c.*66G>T	ENSP00000502242.1:n.*66G>T
ENST00000676077.1:c.-84G>T	ENSP00000502507.1:n.-84G>T
ENST00000676098.1:c.112G>T	ENSP00000502735.1:p.Asp38Tyr
ENST00000676188.1:c.112G>T	ENSP00000502577.1:p.Asp38Tyr
ENST00000676201.1:n.272-565G>T
ENST00000676353.1:c.-78-565G>T	ENSP00000502737.1:n.-78-565G>T
ENST00000676456.1:n.223-565G>T
ENST00000397195.9:c.112G>T	ENSP00000380378.4:p.Asp38Tyr
ENST00000570400.1:c.33-565G>T	ENSP00000460258.1:n.33-565G>T
ENST00000572915.6:n.273-1541G>T
ENST00000574816.5:n.31-10863G>T
ENST00000575477.5:n.620-565G>T
ENST00000576586.5:c.112G>T	ENSP00000461087.1:p.Asp38Tyr
ENST00000609078.1:n.71G>T
NM_000430.3:c.112G>T	NP_000421.1:p.Asp38Tyr
XM_011523901.1:c.166G>T	XP_011522203.1:p.Asp56Tyr
XM_011523902.1:c.166G>T	XP_011522204.1:p.Asp56Tyr
XM_011523903.1:c.166G>T	XP_011522205.1:p.Asp56Tyr
XM_011523904.1:c.166G>T	XP_011522206.1:p.Asp56Tyr
XM_011523901.2:c.166G>T	XP_011522203.1:p.Asp56Tyr
XM_011523902.3:c.166G>T	XP_011522204.1:p.Asp56Tyr
XM_011523903.2:c.166G>T	XP_011522205.1:p.Asp56Tyr
XM_017024701.1:c.112G>T	XP_016880190.1:p.Asp38Tyr
XM_017024702.2:c.-78-565G>T	XP_016880191.1:n.-78-565G>T
NM_000430.4:c.112G>T MANE Select	NP_000421.1:p.Asp38Tyr