Canonical Allele Identifier: CA497425626

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1328223885
• MyVariant Identifiers: chr17:g.2579819T>C (hg19) ; chr17:g.2676525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676525T>C , CM000679.2:g.2676525T>C	GRCh38
NC_000017.10:g.2579819T>C , CM000679.1:g.2579819T>C	GRCh37
NC_000017.9:g.2526569T>C	NCBI36
NG_009799.1:g.87897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.921T>C MANE Select	ENSP00000380378.4:p.Pro307=
ENST00000571495.2:n.2006T>C
ENST00000674608.1:c.975T>C	ENSP00000501976.1:p.Pro325=
ENST00000674717.1:c.726T>C	ENSP00000501931.1:p.Pro242=
ENST00000675084.1:n.175T>C
ENST00000675202.1:c.921T>C	ENSP00000502843.1:p.Pro307=
ENST00000675331.1:c.921T>C	ENSP00000502031.1:p.Pro307=
ENST00000675385.1:n.535T>C
ENST00000675390.1:c.921T>C	ENSP00000501969.1:p.Pro307=
ENST00000675574.1:n.3976T>C
ENST00000675621.1:c.921T>C	ENSP00000502117.1:p.Pro307=
ENST00000675764.1:c.*875T>C	ENSP00000502242.1:n.*875T>C
ENST00000676077.1:c.*239T>C	ENSP00000502507.1:n.*239T>C
ENST00000676098.1:c.921T>C	ENSP00000502735.1:p.Pro307=
ENST00000676188.1:c.921T>C	ENSP00000502577.1:p.Pro307=
ENST00000676353.1:c.726T>C	ENSP00000502737.1:p.Pro242=
ENST00000397193.7:n.729T>C
ENST00000397195.9:c.921T>C	ENSP00000380378.4:p.Pro307=
ENST00000571495.1:n.645T>C
ENST00000572915.6:n.676+2429T>C
ENST00000574468.1:c.396+2237T>C	ENSP00000460591.1:n.396+2237T>C
ENST00000574816.5:n.242T>C
NM_000430.3:c.921T>C	NP_000421.1:p.Pro307=
XM_011523901.1:c.975T>C	XP_011522203.1:p.Pro325=
XM_011523902.1:c.975T>C	XP_011522204.1:p.Pro325=
XM_011523903.1:c.975T>C	XP_011522205.1:p.Pro325=
XM_011523901.2:c.975T>C	XP_011522203.1:p.Pro325=
XM_011523902.3:c.975T>C	XP_011522204.1:p.Pro325=
XM_011523903.2:c.975T>C	XP_011522205.1:p.Pro325=
XM_017024701.1:c.921T>C	XP_016880190.1:p.Pro307=
XM_017024702.2:c.726T>C	XP_016880191.1:p.Pro242=
NM_000430.4:c.921T>C MANE Select	NP_000421.1:p.Pro307=