Canonical Allele Identifier: CA397638313

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2666028-G-C
• MyVariant Identifiers: chr17:g.2569322G>C (hg19) ; chr17:g.2666028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666028G>C , CM000679.2:g.2666028G>C	GRCh38
NC_000017.10:g.2569322G>C , CM000679.1:g.2569322G>C	GRCh37
NC_000017.9:g.2516072G>C	NCBI36
NG_009799.1:g.77400G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.130G>C MANE Select	ENSP00000380378.4:p.Asp44His
ENST00000674608.1:c.184G>C	ENSP00000501976.1:p.Asp62His
ENST00000674717.1:c.-3-964G>C	ENSP00000501931.1:n.-3-964G>C
ENST00000675202.1:c.130G>C	ENSP00000502843.1:p.Asp44His
ENST00000675331.1:c.130G>C	ENSP00000502031.1:p.Asp44His
ENST00000675390.1:c.130G>C	ENSP00000501969.1:p.Asp44His
ENST00000675430.1:n.357G>C
ENST00000675621.1:c.130G>C	ENSP00000502117.1:p.Asp44His
ENST00000675764.1:c.*84G>C	ENSP00000502242.1:n.*84G>C
ENST00000676077.1:c.-66G>C	ENSP00000502507.1:n.-66G>C
ENST00000676098.1:c.130G>C	ENSP00000502735.1:p.Asp44His
ENST00000676188.1:c.130G>C	ENSP00000502577.1:p.Asp44His
ENST00000676201.1:n.284G>C
ENST00000676353.1:c.-66G>C	ENSP00000502737.1:n.-66G>C
ENST00000676456.1:n.235G>C
ENST00000397195.9:c.130G>C	ENSP00000380378.4:p.Asp44His
ENST00000570400.1:c.45G>C	ENSP00000460258.1:p.Ter15Tyr
ENST00000572915.6:n.273-964G>C
ENST00000574816.5:n.31-10286G>C
ENST00000575477.5:n.632G>C
ENST00000576586.5:c.130G>C	ENSP00000461087.1:p.Asp44His
ENST00000609078.1:n.89G>C
NM_000430.3:c.130G>C	NP_000421.1:p.Asp44His
XM_011523901.1:c.184G>C	XP_011522203.1:p.Asp62His
XM_011523902.1:c.184G>C	XP_011522204.1:p.Asp62His
XM_011523903.1:c.184G>C	XP_011522205.1:p.Asp62His
XM_011523904.1:c.184G>C	XP_011522206.1:p.Asp62His
XM_011523901.2:c.184G>C	XP_011522203.1:p.Asp62His
XM_011523902.3:c.184G>C	XP_011522204.1:p.Asp62His
XM_011523903.2:c.184G>C	XP_011522205.1:p.Asp62His
XM_017024701.1:c.130G>C	XP_016880190.1:p.Asp44His
XM_017024702.2:c.-66G>C	XP_016880191.1:n.-66G>C
NM_000430.4:c.130G>C MANE Select	NP_000421.1:p.Asp44His