Canonical Allele Identifier: CA497425697

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676582-T-C
• MyVariant Identifiers: chr17:g.2579876T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676582T>C , CM000679.2:g.2676582T>C	GRCh38
NC_000017.10:g.2579876T>C , CM000679.1:g.2579876T>C	GRCh37
NC_000017.9:g.2526626T>C	NCBI36
NG_009799.1:g.87954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.978T>C MANE Select	ENSP00000380378.4:p.Ser326=
ENST00000571495.2:n.2063T>C
ENST00000674608.1:c.1032T>C	ENSP00000501976.1:p.Ser344=
ENST00000674717.1:c.783T>C	ENSP00000501931.1:p.Ser261=
ENST00000675084.1:n.232T>C
ENST00000675202.1:c.978T>C	ENSP00000502843.1:p.Ser326=
ENST00000675331.1:c.978T>C	ENSP00000502031.1:p.Ser326=
ENST00000675385.1:n.592T>C
ENST00000675390.1:c.978T>C	ENSP00000501969.1:p.Ser326=
ENST00000675574.1:n.4033T>C
ENST00000675621.1:c.978T>C	ENSP00000502117.1:p.Ser326=
ENST00000675764.1:c.*932T>C	ENSP00000502242.1:n.*932T>C
ENST00000676077.1:c.*296T>C	ENSP00000502507.1:n.*296T>C
ENST00000676098.1:c.978T>C	ENSP00000502735.1:p.Ser326=
ENST00000676188.1:c.978T>C	ENSP00000502577.1:p.Ser326=
ENST00000676353.1:c.783T>C	ENSP00000502737.1:p.Ser261=
ENST00000397193.7:n.786T>C
ENST00000397195.9:c.978T>C	ENSP00000380378.4:p.Ser326=
ENST00000571495.1:n.702T>C
ENST00000572915.6:n.676+2486T>C
ENST00000574468.1:c.396+2294T>C	ENSP00000460591.1:n.396+2294T>C
ENST00000574816.5:n.299T>C
NM_000430.3:c.978T>C	NP_000421.1:p.Ser326=
XM_011523901.1:c.1032T>C	XP_011522203.1:p.Ser344=
XM_011523902.1:c.1032T>C	XP_011522204.1:p.Ser344=
XM_011523903.1:c.1032T>C	XP_011522205.1:p.Ser344=
XM_011523901.2:c.1032T>C	XP_011522203.1:p.Ser344=
XM_011523902.3:c.1032T>C	XP_011522204.1:p.Ser344=
XM_011523903.2:c.1032T>C	XP_011522205.1:p.Ser344=
XM_017024701.1:c.978T>C	XP_016880190.1:p.Ser326=
XM_017024702.2:c.783T>C	XP_016880191.1:p.Ser261=
NM_000430.4:c.978T>C MANE Select	NP_000421.1:p.Ser326=