Canonical Allele Identifier: CA10669993

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42746620G>A , CM000663.2:g.42746620G>A	GRCh38
NC_000001.10:g.43212291G>A , CM000663.1:g.43212291G>A	GRCh37
NC_000001.9:g.42984878G>A	NCBI36
NG_008123.1:g.25465C>T , LRG_5:g.25465C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.*77C>T MANE Select	NP_071751.3:n.*77C>T
ENST00000296388.10:c.*77C>T MANE Select	ENSP00000296388.5:n.*77C>T
NM_001146289.1:c.*213C>T , LRG_5t2:c.*213C>T	NP_001139761.1:n.*213C>T
NM_001146289.2:c.*213C>T	NP_001139761.1:n.*213C>T
NM_001243246.1:c.*292C>T , LRG_5t3:c.*292C>T	NP_001230175.1:n.*292C>T
NM_001243246.2:c.*292C>T	NP_001230175.1:n.*292C>T
NM_022356.3:c.*77C>T , LRG_5t1:c.*77C>T	NP_071751.3:n.*77C>T
ENST00000236040.8:c.*292C>T	ENSP00000236040.4:n.*292C>T
ENST00000296388.9:c.*77C>T	ENSP00000296388.5:n.*77C>T
ENST00000397054.7:c.*213C>T	ENSP00000380245.3:n.*213C>T
ENST00000460031.5:n.2480C>T
ENST00000462474.5:n.469C>T
ENST00000472802.1:n.557C>T
ENST00000495874.5:n.2568C>T
XM_005271110.2:c.*77C>T	XP_005271167.1:n.*77C>T
XM_011541947.1:c.*77C>T	XP_011540249.1:n.*77C>T
XM_011541948.1:c.*77C>T	XP_011540250.1:n.*77C>T
XM_011541949.1:c.*77C>T	XP_011540251.1:n.*77C>T
XM_017002051.2:c.*77C>T	XP_016857540.1:n.*77C>T
XM_017002052.2:c.*77C>T	XP_016857541.1:n.*77C>T