Canonical Allele Identifier: CA497425667

Gene: PAFAH1B1

Linked Data

• MyVariant Identifiers: chr17:g.2579843C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676549C>T , CM000679.2:g.2676549C>T	GRCh38
NC_000017.10:g.2579843C>T , CM000679.1:g.2579843C>T	GRCh37
NC_000017.9:g.2526593C>T	NCBI36
NG_009799.1:g.87921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.945C>T MANE Select	ENSP00000380378.4:p.Ser315=
ENST00000571495.2:n.2030C>T
ENST00000674608.1:c.999C>T	ENSP00000501976.1:p.Ser333=
ENST00000674717.1:c.750C>T	ENSP00000501931.1:p.Ser250=
ENST00000675084.1:n.199C>T
ENST00000675202.1:c.945C>T	ENSP00000502843.1:p.Ser315=
ENST00000675331.1:c.945C>T	ENSP00000502031.1:p.Ser315=
ENST00000675385.1:n.559C>T
ENST00000675390.1:c.945C>T	ENSP00000501969.1:p.Ser315=
ENST00000675574.1:n.4000C>T
ENST00000675621.1:c.945C>T	ENSP00000502117.1:p.Ser315=
ENST00000675764.1:c.*899C>T	ENSP00000502242.1:n.*899C>T
ENST00000676077.1:c.*263C>T	ENSP00000502507.1:n.*263C>T
ENST00000676098.1:c.945C>T	ENSP00000502735.1:p.Ser315=
ENST00000676188.1:c.945C>T	ENSP00000502577.1:p.Ser315=
ENST00000676353.1:c.750C>T	ENSP00000502737.1:p.Ser250=
ENST00000397193.7:n.753C>T
ENST00000397195.9:c.945C>T	ENSP00000380378.4:p.Ser315=
ENST00000571495.1:n.669C>T
ENST00000572915.6:n.676+2453C>T
ENST00000574468.1:c.396+2261C>T	ENSP00000460591.1:n.396+2261C>T
ENST00000574816.5:n.266C>T
NM_000430.3:c.945C>T	NP_000421.1:p.Ser315=
XM_011523901.1:c.999C>T	XP_011522203.1:p.Ser333=
XM_011523902.1:c.999C>T	XP_011522204.1:p.Ser333=
XM_011523903.1:c.999C>T	XP_011522205.1:p.Ser333=
XM_011523901.2:c.999C>T	XP_011522203.1:p.Ser333=
XM_011523902.3:c.999C>T	XP_011522204.1:p.Ser333=
XM_011523903.2:c.999C>T	XP_011522205.1:p.Ser333=
XM_017024701.1:c.945C>T	XP_016880190.1:p.Ser315=
XM_017024702.2:c.750C>T	XP_016880191.1:p.Ser250=
NM_000430.4:c.945C>T MANE Select	NP_000421.1:p.Ser315=