Canonical Allele Identifier: CA397642275

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2579868G>C (hg19) ; chr17:g.2676574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676574G>C , CM000679.2:g.2676574G>C	GRCh38
NC_000017.10:g.2579868G>C , CM000679.1:g.2579868G>C	GRCh37
NC_000017.9:g.2526618G>C	NCBI36
NG_009799.1:g.87946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.970G>C MANE Select	ENSP00000380378.4:p.Asp324His
ENST00000571495.2:n.2055G>C
ENST00000674608.1:c.1024G>C	ENSP00000501976.1:p.Asp342His
ENST00000674717.1:c.775G>C	ENSP00000501931.1:p.Asp259His
ENST00000675084.1:n.224G>C
ENST00000675202.1:c.970G>C	ENSP00000502843.1:p.Asp324His
ENST00000675331.1:c.970G>C	ENSP00000502031.1:p.Asp324His
ENST00000675385.1:n.584G>C
ENST00000675390.1:c.970G>C	ENSP00000501969.1:p.Asp324His
ENST00000675574.1:n.4025G>C
ENST00000675621.1:c.970G>C	ENSP00000502117.1:p.Asp324His
ENST00000675764.1:c.*924G>C	ENSP00000502242.1:n.*924G>C
ENST00000676077.1:c.*288G>C	ENSP00000502507.1:n.*288G>C
ENST00000676098.1:c.970G>C	ENSP00000502735.1:p.Asp324His
ENST00000676188.1:c.970G>C	ENSP00000502577.1:p.Asp324His
ENST00000676353.1:c.775G>C	ENSP00000502737.1:p.Asp259His
ENST00000397193.7:n.778G>C
ENST00000397195.9:c.970G>C	ENSP00000380378.4:p.Asp324His
ENST00000571495.1:n.694G>C
ENST00000572915.6:n.676+2478G>C
ENST00000574468.1:c.396+2286G>C	ENSP00000460591.1:n.396+2286G>C
ENST00000574816.5:n.291G>C
NM_000430.3:c.970G>C	NP_000421.1:p.Asp324His
XM_011523901.1:c.1024G>C	XP_011522203.1:p.Asp342His
XM_011523902.1:c.1024G>C	XP_011522204.1:p.Asp342His
XM_011523903.1:c.1024G>C	XP_011522205.1:p.Asp342His
XM_011523901.2:c.1024G>C	XP_011522203.1:p.Asp342His
XM_011523902.3:c.1024G>C	XP_011522204.1:p.Asp342His
XM_011523903.2:c.1024G>C	XP_011522205.1:p.Asp342His
XM_017024701.1:c.970G>C	XP_016880190.1:p.Asp324His
XM_017024702.2:c.775G>C	XP_016880191.1:p.Asp259His
NM_000430.4:c.970G>C MANE Select	NP_000421.1:p.Asp324His