Canonical Allele Identifier: CA397642323

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676594-C-A
• MyVariant Identifiers: chr17:g.2579888C>A (hg19) ; chr17:g.2676594C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676594C>A , CM000679.2:g.2676594C>A	GRCh38
NC_000017.10:g.2579888C>A , CM000679.1:g.2579888C>A	GRCh37
NC_000017.9:g.2526638C>A	NCBI36
NG_009799.1:g.87966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.990C>A MANE Select	ENSP00000380378.4:p.Cys330Ter
ENST00000571495.2:n.2075C>A
ENST00000674608.1:c.1044C>A	ENSP00000501976.1:p.Cys348Ter
ENST00000674717.1:c.795C>A	ENSP00000501931.1:p.Cys265Ter
ENST00000675084.1:n.244C>A
ENST00000675202.1:c.990C>A	ENSP00000502843.1:p.Cys330Ter
ENST00000675331.1:c.990C>A	ENSP00000502031.1:p.Cys330Ter
ENST00000675385.1:n.604C>A
ENST00000675390.1:c.990C>A	ENSP00000501969.1:p.Cys330Ter
ENST00000675574.1:n.4045C>A
ENST00000675621.1:c.990C>A	ENSP00000502117.1:p.Cys330Ter
ENST00000675764.1:c.*944C>A	ENSP00000502242.1:n.*944C>A
ENST00000676077.1:c.*308C>A	ENSP00000502507.1:n.*308C>A
ENST00000676098.1:c.990C>A	ENSP00000502735.1:p.Cys330Ter
ENST00000676188.1:c.990C>A	ENSP00000502577.1:p.Cys330Ter
ENST00000676353.1:c.795C>A	ENSP00000502737.1:p.Cys265Ter
ENST00000397193.7:n.798C>A
ENST00000397195.9:c.990C>A	ENSP00000380378.4:p.Cys330Ter
ENST00000571495.1:n.714C>A
ENST00000572915.6:n.676+2498C>A
ENST00000574468.1:c.396+2306C>A	ENSP00000460591.1:n.396+2306C>A
ENST00000574816.5:n.311C>A
NM_000430.3:c.990C>A	NP_000421.1:p.Cys330Ter
XM_011523901.1:c.1044C>A	XP_011522203.1:p.Cys348Ter
XM_011523902.1:c.1044C>A	XP_011522204.1:p.Cys348Ter
XM_011523903.1:c.1044C>A	XP_011522205.1:p.Cys348Ter
XM_011523901.2:c.1044C>A	XP_011522203.1:p.Cys348Ter
XM_011523902.3:c.1044C>A	XP_011522204.1:p.Cys348Ter
XM_011523903.2:c.1044C>A	XP_011522205.1:p.Cys348Ter
XM_017024701.1:c.990C>A	XP_016880190.1:p.Cys330Ter
XM_017024702.2:c.795C>A	XP_016880191.1:p.Cys265Ter
NM_000430.4:c.990C>A MANE Select	NP_000421.1:p.Cys330Ter