Canonical Allele Identifier: CA801689

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42748209C>T , CM000663.2:g.42748209C>T	GRCh38
NC_000001.10:g.43213880C>T , CM000663.1:g.43213880C>T	GRCh37
NC_000001.9:g.42986467C>T	NCBI36
NG_008123.1:g.23876G>A , LRG_5:g.23876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1829G>A MANE Select	ENSP00000296388.5:p.Arg610His
ENST00000236040.8:c.1829G>A	ENSP00000236040.4:p.Arg610His
ENST00000296388.9:c.1829G>A	ENSP00000296388.5:p.Arg610His
ENST00000397054.7:c.1829G>A	ENSP00000380245.3:p.Arg610His
ENST00000431412.3:c.751G>A
ENST00000460031.5:n.2021G>A
ENST00000460831.1:n.535G>A
ENST00000495874.5:n.2109G>A
NM_001146289.1:c.1829G>A , LRG_5t2:c.1829G>A	NP_001139761.1:p.Arg610His
NM_001243246.1:c.1829G>A , LRG_5t3:c.1829G>A	NP_001230175.1:p.Arg610His
NM_022356.3:c.1829G>A , LRG_5t1:c.1829G>A	NP_071751.3:p.Arg610His
XM_005271110.2:c.821G>A	XP_005271167.1:p.Arg274His
XM_011541947.1:c.854G>A	XP_011540249.1:p.Arg285His
XM_011541948.1:c.854G>A	XP_011540250.1:p.Arg285His
XM_011541949.1:c.851G>A	XP_011540251.1:p.Arg284His
XM_017002051.2:c.854G>A	XP_016857540.1:p.Arg285His
XM_017002052.2:c.851G>A	XP_016857541.1:p.Arg284His
XR_946739.2:n.1954G>A
NM_022356.4:c.1829G>A MANE Select	NP_071751.3:p.Arg610His
NM_001146289.2:c.1829G>A	NP_001139761.1:p.Arg610His
NM_001243246.2:c.1829G>A	NP_001230175.1:p.Arg610His