Canonical Allele Identifier: CA397638840

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2069115921
• gnomAD v4: 17-2667101-A-G
• MyVariant Identifiers: chr17:g.2570395A>G (hg19) ; chr17:g.2667101A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2667101A>G , CM000679.2:g.2667101A>G	GRCh38
NC_000017.10:g.2570395A>G , CM000679.1:g.2570395A>G	GRCh37
NC_000017.9:g.2517145A>G	NCBI36
NG_009799.1:g.78473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.302A>G MANE Select	ENSP00000380378.4:p.Lys101Arg
ENST00000674608.1:c.356A>G	ENSP00000501976.1:p.Lys119Arg
ENST00000674717.1:c.107A>G	ENSP00000501931.1:p.Lys36Arg
ENST00000675202.1:c.302A>G	ENSP00000502843.1:p.Lys101Arg
ENST00000675331.1:c.302A>G	ENSP00000502031.1:p.Lys101Arg
ENST00000675390.1:c.302A>G	ENSP00000501969.1:p.Lys101Arg
ENST00000675430.1:n.529A>G
ENST00000675621.1:c.302A>G	ENSP00000502117.1:p.Lys101Arg
ENST00000675764.1:c.*256A>G	ENSP00000502242.1:n.*256A>G
ENST00000676077.1:c.107A>G	ENSP00000502507.1:p.Lys36Arg
ENST00000676098.1:c.302A>G	ENSP00000502735.1:p.Lys101Arg
ENST00000676188.1:c.302A>G	ENSP00000502577.1:p.Lys101Arg
ENST00000676201.1:n.456A>G
ENST00000676353.1:c.107A>G	ENSP00000502737.1:p.Lys36Arg
ENST00000676456.1:n.407A>G
ENST00000397195.9:c.302A>G	ENSP00000380378.4:p.Lys101Arg
ENST00000570400.1:c.*172A>G	ENSP00000460258.1:n.*172A>G
ENST00000572915.6:n.382A>G
ENST00000574816.5:n.31-9213A>G
ENST00000609078.1:n.261A>G
NM_000430.3:c.302A>G	NP_000421.1:p.Lys101Arg
XM_011523901.1:c.356A>G	XP_011522203.1:p.Lys119Arg
XM_011523902.1:c.356A>G	XP_011522204.1:p.Lys119Arg
XM_011523903.1:c.356A>G	XP_011522205.1:p.Lys119Arg
XM_011523904.1:c.356A>G	XP_011522206.1:p.Lys119Arg
XM_011523901.2:c.356A>G	XP_011522203.1:p.Lys119Arg
XM_011523902.3:c.356A>G	XP_011522204.1:p.Lys119Arg
XM_011523903.2:c.356A>G	XP_011522205.1:p.Lys119Arg
XM_017024701.1:c.302A>G	XP_016880190.1:p.Lys101Arg
XM_017024702.2:c.107A>G	XP_016880191.1:p.Lys36Arg
NM_000430.4:c.302A>G MANE Select	NP_000421.1:p.Lys101Arg