Canonical Allele Identifier: CA245405

Gene: P3H1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42758940C>T , CM000663.2:g.42758940C>T	GRCh38
NC_000001.10:g.43224611C>T , CM000663.1:g.43224611C>T	GRCh37
NC_000001.9:g.42997198C>T	NCBI36
NG_008123.1:g.13145G>A , LRG_5:g.13145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.852G>A MANE Select	ENSP00000296388.5:p.Thr284=
ENST00000236040.8:c.852G>A	ENSP00000236040.4:p.Thr284=
ENST00000296388.9:c.852G>A	ENSP00000296388.5:p.Thr284=
ENST00000397054.7:c.852G>A	ENSP00000380245.3:p.Thr284=
ENST00000460031.5:n.870G>A
ENST00000463465.1:n.318G>A
ENST00000495874.5:n.903G>A
NM_001146289.1:c.852G>A , LRG_5t2:c.852G>A	NP_001139761.1:p.Thr284=
NM_001243246.1:c.852G>A , LRG_5t3:c.852G>A	NP_001230175.1:p.Thr284=
NM_022356.3:c.852G>A , LRG_5t1:c.852G>A	NP_071751.3:p.Thr284=
XM_005271110.2:c.-157G>A	XP_005271167.1:n.-157G>A
XM_011541947.1:c.-179G>A	XP_011540249.1:n.-179G>A
XM_011541948.1:c.-179G>A	XP_011540250.1:n.-179G>A
XM_011541949.1:c.-179G>A	XP_011540251.1:n.-179G>A
XR_946739.1:n.909G>A
XM_017002051.2:c.-179G>A	XP_016857540.1:n.-179G>A
XM_017002052.2:c.-179G>A	XP_016857541.1:n.-179G>A
XR_946739.2:n.909G>A
NM_022356.4:c.852G>A MANE Select	NP_071751.3:p.Thr284=
NM_001146289.2:c.852G>A	NP_001139761.1:p.Thr284=
NM_001243246.2:c.852G>A	NP_001230175.1:p.Thr284=