Canonical Allele Identifier: CA397638024

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2568706G>C (hg19) ; chr17:g.2665412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665412G>C , CM000679.2:g.2665412G>C	GRCh38
NC_000017.10:g.2568706G>C , CM000679.1:g.2568706G>C	GRCh37
NC_000017.9:g.2515456G>C	NCBI36
NG_009799.1:g.76784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.73G>C MANE Select	ENSP00000380378.4:p.Glu25Gln
ENST00000674608.1:c.127G>C	ENSP00000501976.1:p.Glu43Gln
ENST00000674717.1:c.-3-1580G>C	ENSP00000501931.1:n.-3-1580G>C
ENST00000675202.1:c.73G>C	ENSP00000502843.1:p.Glu25Gln
ENST00000675331.1:c.73G>C	ENSP00000502031.1:p.Glu25Gln
ENST00000675390.1:c.73G>C	ENSP00000501969.1:p.Glu25Gln
ENST00000675430.1:n.300G>C
ENST00000675621.1:c.73G>C	ENSP00000502117.1:p.Glu25Gln
ENST00000675764.1:c.*27G>C	ENSP00000502242.1:n.*27G>C
ENST00000676077.1:c.-123G>C	ENSP00000502507.1:n.-123G>C
ENST00000676098.1:c.73G>C	ENSP00000502735.1:p.Glu25Gln
ENST00000676188.1:c.73G>C	ENSP00000502577.1:p.Glu25Gln
ENST00000676201.1:n.272-604G>C
ENST00000676353.1:c.-78-604G>C	ENSP00000502737.1:n.-78-604G>C
ENST00000676456.1:n.223-604G>C
ENST00000397195.9:c.73G>C	ENSP00000380378.4:p.Glu25Gln
ENST00000570400.1:c.33-604G>C	ENSP00000460258.1:n.33-604G>C
ENST00000572915.6:n.273-1580G>C
ENST00000574816.5:n.31-10902G>C
ENST00000575477.5:n.620-604G>C
ENST00000576586.5:c.73G>C	ENSP00000461087.1:p.Glu25Gln
ENST00000609078.1:n.32G>C
NM_000430.3:c.73G>C	NP_000421.1:p.Glu25Gln
XM_011523901.1:c.127G>C	XP_011522203.1:p.Glu43Gln
XM_011523902.1:c.127G>C	XP_011522204.1:p.Glu43Gln
XM_011523903.1:c.127G>C	XP_011522205.1:p.Glu43Gln
XM_011523904.1:c.127G>C	XP_011522206.1:p.Glu43Gln
XM_011523901.2:c.127G>C	XP_011522203.1:p.Glu43Gln
XM_011523902.3:c.127G>C	XP_011522204.1:p.Glu43Gln
XM_011523903.2:c.127G>C	XP_011522205.1:p.Glu43Gln
XM_017024701.1:c.73G>C	XP_016880190.1:p.Glu25Gln
XM_017024702.2:c.-78-604G>C	XP_016880191.1:n.-78-604G>C
NM_000430.4:c.73G>C MANE Select	NP_000421.1:p.Glu25Gln