Canonical Allele Identifier: CA397641964

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2674223-G-A
• MyVariant Identifiers: chr17:g.2577517G>A (hg19) ; chr17:g.2674223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674223G>A , CM000679.2:g.2674223G>A	GRCh38
NC_000017.10:g.2577517G>A , CM000679.1:g.2577517G>A	GRCh37
NC_000017.9:g.2524267G>A	NCBI36
NG_009799.1:g.85595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.835G>A MANE Select	ENSP00000380378.4:p.Val279Ile
ENST00000571495.2:n.1920G>A
ENST00000674608.1:c.889G>A	ENSP00000501976.1:p.Val297Ile
ENST00000674717.1:c.640G>A	ENSP00000501931.1:p.Val214Ile
ENST00000675202.1:c.835G>A	ENSP00000502843.1:p.Val279Ile
ENST00000675331.1:c.835G>A	ENSP00000502031.1:p.Val279Ile
ENST00000675390.1:c.835G>A	ENSP00000501969.1:p.Val279Ile
ENST00000675574.1:n.1907G>A
ENST00000675621.1:c.835G>A	ENSP00000502117.1:p.Val279Ile
ENST00000675764.1:c.*789G>A	ENSP00000502242.1:n.*789G>A
ENST00000676077.1:c.*153G>A	ENSP00000502507.1:n.*153G>A
ENST00000676098.1:c.835G>A	ENSP00000502735.1:p.Val279Ile
ENST00000676188.1:c.835G>A	ENSP00000502577.1:p.Val279Ile
ENST00000676353.1:c.640G>A	ENSP00000502737.1:p.Val214Ile
ENST00000397193.7:n.643G>A
ENST00000397195.9:c.835G>A	ENSP00000380378.4:p.Val279Ile
ENST00000571495.1:n.559G>A
ENST00000572915.6:n.676+127G>A
ENST00000574468.1:c.331G>A	ENSP00000460591.1:p.Val111Ile
ENST00000574816.5:n.31-2091G>A
NM_000430.3:c.835G>A	NP_000421.1:p.Val279Ile
XM_011523901.1:c.889G>A	XP_011522203.1:p.Val297Ile
XM_011523902.1:c.889G>A	XP_011522204.1:p.Val297Ile
XM_011523903.1:c.889G>A	XP_011522205.1:p.Val297Ile
XM_011523901.2:c.889G>A	XP_011522203.1:p.Val297Ile
XM_011523902.3:c.889G>A	XP_011522204.1:p.Val297Ile
XM_011523903.2:c.889G>A	XP_011522205.1:p.Val297Ile
XM_017024701.1:c.835G>A	XP_016880190.1:p.Val279Ile
XM_017024702.2:c.640G>A	XP_016880191.1:p.Val214Ile
NM_000430.4:c.835G>A MANE Select	NP_000421.1:p.Val279Ile