Canonical Allele Identifier: CA801993

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42757795G>A , CM000663.2:g.42757795G>A	GRCh38
NC_000001.10:g.43223466G>A , CM000663.1:g.43223466G>A	GRCh37
NC_000001.9:g.42996053G>A	NCBI36
NG_008123.1:g.14290C>T , LRG_5:g.14290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1068C>T MANE Select	ENSP00000296388.5:p.Ile356=
ENST00000236040.8:c.1068C>T	ENSP00000236040.4:p.Ile356=
ENST00000296388.9:c.1068C>T	ENSP00000296388.5:p.Ile356=
ENST00000397054.7:c.1068C>T	ENSP00000380245.3:p.Ile356=
ENST00000460031.5:n.1086C>T
ENST00000463465.1:n.557C>T
ENST00000495874.5:n.1119C>T
NM_001146289.1:c.1068C>T , LRG_5t2:c.1068C>T	NP_001139761.1:p.Ile356=
NM_001243246.1:c.1068C>T , LRG_5t3:c.1068C>T	NP_001230175.1:p.Ile356=
NM_022356.3:c.1068C>T , LRG_5t1:c.1068C>T	NP_071751.3:p.Ile356=
XM_005271110.2:c.60C>T	XP_005271167.1:p.Ile20=
XM_011541947.1:c.38C>T	XP_011540249.1:p.Ser13Leu
XM_011541948.1:c.38C>T	XP_011540250.1:p.Ser13Leu
XM_011541949.1:c.38C>T	XP_011540251.1:p.Ser13Leu
XR_946739.1:n.1125C>T
XM_017002051.2:c.38C>T	XP_016857540.1:p.Ser13Leu
XM_017002052.2:c.38C>T	XP_016857541.1:p.Ser13Leu
XR_946739.2:n.1125C>T
NM_022356.4:c.1068C>T MANE Select	NP_071751.3:p.Ile356=
NM_001146289.2:c.1068C>T	NP_001139761.1:p.Ile356=
NM_001243246.2:c.1068C>T	NP_001230175.1:p.Ile356=