Canonical Allele Identifier: CA801501

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42746718C>T , CM000663.2:g.42746718C>T	GRCh38
NC_000001.10:g.43212389C>T , CM000663.1:g.43212389C>T	GRCh37
NC_000001.9:g.42984976C>T	NCBI36
NG_008123.1:g.25367G>A , LRG_5:g.25367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.2190G>A MANE Select	ENSP00000296388.5:p.Ser730=
ENST00000236040.8:c.*194G>A	ENSP00000236040.4:n.*194G>A
ENST00000296388.9:c.2190G>A	ENSP00000296388.5:p.Ser730=
ENST00000397054.7:c.*115G>A	ENSP00000380245.3:n.*115G>A
ENST00000460031.5:n.2382G>A
ENST00000462474.5:n.371G>A
ENST00000472802.1:n.459G>A
ENST00000495874.5:n.2470G>A
NM_001146289.1:c.*115G>A , LRG_5t2:c.*115G>A	NP_001139761.1:n.*115G>A
NM_001243246.1:c.*194G>A , LRG_5t3:c.*194G>A	NP_001230175.1:n.*194G>A
NM_022356.3:c.2190G>A , LRG_5t1:c.2190G>A	NP_071751.3:p.Ser730=
XM_005271110.2:c.1182G>A	XP_005271167.1:p.Ser394=
XM_011541947.1:c.1215G>A	XP_011540249.1:p.Ser405=
XM_011541948.1:c.1215G>A	XP_011540250.1:p.Ser405=
XM_011541949.1:c.1212G>A	XP_011540251.1:p.Ser404=
XM_017002051.2:c.1215G>A	XP_016857540.1:p.Ser405=
XM_017002052.2:c.1212G>A	XP_016857541.1:p.Ser404=
NM_022356.4:c.2190G>A MANE Select	NP_071751.3:p.Ser730=
NM_001146289.2:c.*115G>A	NP_001139761.1:n.*115G>A
NM_001243246.2:c.*194G>A	NP_001230175.1:n.*194G>A