Canonical Allele Identifier: CA397641363

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2576014A>T (hg19) ; chr17:g.2672720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672720A>T , CM000679.2:g.2672720A>T	GRCh38
NC_000017.10:g.2576014A>T , CM000679.1:g.2576014A>T	GRCh37
NC_000017.9:g.2522764A>T	NCBI36
NG_009799.1:g.84092A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.634A>T MANE Select	ENSP00000380378.4:p.Arg212Trp
ENST00000571495.2:n.417A>T
ENST00000674608.1:c.688A>T	ENSP00000501976.1:p.Arg230Trp
ENST00000674717.1:c.439A>T	ENSP00000501931.1:p.Arg147Trp
ENST00000675202.1:c.634A>T	ENSP00000502843.1:p.Arg212Trp
ENST00000675331.1:c.634A>T	ENSP00000502031.1:p.Arg212Trp
ENST00000675390.1:c.634A>T	ENSP00000501969.1:p.Arg212Trp
ENST00000675574.1:n.404A>T
ENST00000675621.1:c.634A>T	ENSP00000502117.1:p.Arg212Trp
ENST00000675764.1:c.*588A>T	ENSP00000502242.1:n.*588A>T
ENST00000676077.1:c.374-1340A>T	ENSP00000502507.1:n.374-1340A>T
ENST00000676098.1:c.634A>T	ENSP00000502735.1:p.Arg212Trp
ENST00000676188.1:c.634A>T	ENSP00000502577.1:p.Arg212Trp
ENST00000676353.1:c.439A>T	ENSP00000502737.1:p.Arg147Trp
ENST00000397193.7:n.442A>T
ENST00000397195.9:c.634A>T	ENSP00000380378.4:p.Arg212Trp
ENST00000572915.6:n.602A>T
ENST00000574468.1:c.130A>T	ENSP00000460591.1:p.Arg44Trp
ENST00000574816.5:n.31-3594A>T
NM_000430.3:c.634A>T	NP_000421.1:p.Arg212Trp
XM_011523901.1:c.688A>T	XP_011522203.1:p.Arg230Trp
XM_011523902.1:c.688A>T	XP_011522204.1:p.Arg230Trp
XM_011523903.1:c.688A>T	XP_011522205.1:p.Arg230Trp
XM_011523904.1:c.623-1340A>T	XP_011522206.1:n.623-1340A>T
XM_011523901.2:c.688A>T	XP_011522203.1:p.Arg230Trp
XM_011523902.3:c.688A>T	XP_011522204.1:p.Arg230Trp
XM_011523903.2:c.688A>T	XP_011522205.1:p.Arg230Trp
XM_017024701.1:c.634A>T	XP_016880190.1:p.Arg212Trp
XM_017024702.2:c.439A>T	XP_016880191.1:p.Arg147Trp
NM_000430.4:c.634A>T MANE Select	NP_000421.1:p.Arg212Trp