Canonical Allele Identifier: CA397641539

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2576046A>C (hg19) ; chr17:g.2672752A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672752A>C , CM000679.2:g.2672752A>C	GRCh38
NC_000017.10:g.2576046A>C , CM000679.1:g.2576046A>C	GRCh37
NC_000017.9:g.2522796A>C	NCBI36
NG_009799.1:g.84124A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.666A>C MANE Select	ENSP00000380378.4:p.Gln222His
ENST00000571495.2:n.449A>C
ENST00000674608.1:c.720A>C	ENSP00000501976.1:p.Gln240His
ENST00000674717.1:c.471A>C	ENSP00000501931.1:p.Gln157His
ENST00000675202.1:c.666A>C	ENSP00000502843.1:p.Gln222His
ENST00000675331.1:c.666A>C	ENSP00000502031.1:p.Gln222His
ENST00000675390.1:c.666A>C	ENSP00000501969.1:p.Gln222His
ENST00000675574.1:n.436A>C
ENST00000675621.1:c.666A>C	ENSP00000502117.1:p.Gln222His
ENST00000675764.1:c.*620A>C	ENSP00000502242.1:n.*620A>C
ENST00000676077.1:c.374-1308A>C	ENSP00000502507.1:n.374-1308A>C
ENST00000676098.1:c.666A>C	ENSP00000502735.1:p.Gln222His
ENST00000676188.1:c.666A>C	ENSP00000502577.1:p.Gln222His
ENST00000676353.1:c.471A>C	ENSP00000502737.1:p.Gln157His
ENST00000397193.7:n.474A>C
ENST00000397195.9:c.666A>C	ENSP00000380378.4:p.Gln222His
ENST00000572915.6:n.634A>C
ENST00000574468.1:c.162A>C	ENSP00000460591.1:p.Gln54His
ENST00000574816.5:n.31-3562A>C
NM_000430.3:c.666A>C	NP_000421.1:p.Gln222His
XM_011523901.1:c.720A>C	XP_011522203.1:p.Gln240His
XM_011523902.1:c.720A>C	XP_011522204.1:p.Gln240His
XM_011523903.1:c.720A>C	XP_011522205.1:p.Gln240His
XM_011523904.1:c.623-1308A>C	XP_011522206.1:n.623-1308A>C
XM_011523901.2:c.720A>C	XP_011522203.1:p.Gln240His
XM_011523902.3:c.720A>C	XP_011522204.1:p.Gln240His
XM_011523903.2:c.720A>C	XP_011522205.1:p.Gln240His
XM_017024701.1:c.666A>C	XP_016880190.1:p.Gln222His
XM_017024702.2:c.471A>C	XP_016880191.1:p.Gln157His
NM_000430.4:c.666A>C MANE Select	NP_000421.1:p.Gln222His