Canonical Allele Identifier: CA397641036

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 2573003
• ClinVar RCV Id: RCV003315117
• MyVariant Identifiers: chr17:g.2575949G>T (hg19) ; chr17:g.2672655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672655G>T , CM000679.2:g.2672655G>T	GRCh38
NC_000017.10:g.2575949G>T , CM000679.1:g.2575949G>T	GRCh37
NC_000017.9:g.2522699G>T	NCBI36
NG_009799.1:g.84027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.569G>T MANE Select	ENSP00000380378.4:p.Gly190Val
ENST00000571495.2:n.352G>T
ENST00000674608.1:c.623G>T	ENSP00000501976.1:p.Gly208Val
ENST00000674717.1:c.374G>T	ENSP00000501931.1:p.Gly125Val
ENST00000675202.1:c.569G>T	ENSP00000502843.1:p.Gly190Val
ENST00000675331.1:c.569G>T	ENSP00000502031.1:p.Gly190Val
ENST00000675390.1:c.569G>T	ENSP00000501969.1:p.Gly190Val
ENST00000675574.1:n.339G>T
ENST00000675621.1:c.569G>T	ENSP00000502117.1:p.Gly190Val
ENST00000675764.1:c.*523G>T	ENSP00000502242.1:n.*523G>T
ENST00000676077.1:c.374-1405G>T	ENSP00000502507.1:n.374-1405G>T
ENST00000676098.1:c.569G>T	ENSP00000502735.1:p.Gly190Val
ENST00000676188.1:c.569G>T	ENSP00000502577.1:p.Gly190Val
ENST00000676353.1:c.374G>T	ENSP00000502737.1:p.Gly125Val
ENST00000397193.7:n.377G>T
ENST00000397195.9:c.569G>T	ENSP00000380378.4:p.Gly190Val
ENST00000572915.6:n.537G>T
ENST00000574468.1:c.65G>T	ENSP00000460591.1:p.Gly22Val
ENST00000574816.5:n.31-3659G>T
NM_000430.3:c.569G>T	NP_000421.1:p.Gly190Val
XM_011523901.1:c.623G>T	XP_011522203.1:p.Gly208Val
XM_011523902.1:c.623G>T	XP_011522204.1:p.Gly208Val
XM_011523903.1:c.623G>T	XP_011522205.1:p.Gly208Val
XM_011523904.1:c.623-1405G>T	XP_011522206.1:n.623-1405G>T
XM_011523901.2:c.623G>T	XP_011522203.1:p.Gly208Val
XM_011523902.3:c.623G>T	XP_011522204.1:p.Gly208Val
XM_011523903.2:c.623G>T	XP_011522205.1:p.Gly208Val
XM_017024701.1:c.569G>T	XP_016880190.1:p.Gly190Val
XM_017024702.2:c.374G>T	XP_016880191.1:p.Gly125Val
NM_000430.4:c.569G>T MANE Select	NP_000421.1:p.Gly190Val