Canonical Allele Identifier: CA417397185

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42766903C>T , CM000663.2:g.42766903C>T	GRCh38
NC_000001.10:g.43232574C>T , CM000663.1:g.43232574C>T	GRCh37
NC_000001.9:g.43005161C>T	NCBI36
NG_008123.1:g.5182G>A , LRG_5:g.5182G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.69G>A MANE Select	NP_071751.3:p.Glu23=
ENST00000296388.10:c.69G>A MANE Select	ENSP00000296388.5:p.Glu23=
NM_001146289.1:c.69G>A , LRG_5t2:c.69G>A	NP_001139761.1:p.Glu23=
NM_001146289.2:c.69G>A	NP_001139761.1:p.Glu23=
NM_001243246.1:c.69G>A , LRG_5t3:c.69G>A	NP_001230175.1:p.Glu23=
NM_001243246.2:c.69G>A	NP_001230175.1:p.Glu23=
NM_022356.3:c.69G>A , LRG_5t1:c.69G>A	NP_071751.3:p.Glu23=
ENST00000236040.8:c.69G>A	ENSP00000236040.4:p.Glu23=
ENST00000296388.9:c.69G>A	ENSP00000296388.5:p.Glu23=
ENST00000372526.2:c.69G>A	ENSP00000361604.2:p.Glu23=
ENST00000397054.7:c.69G>A	ENSP00000380245.3:p.Glu23=
ENST00000460031.5:n.87G>A
ENST00000492956.1:n.115G>A
ENST00000495874.5:n.120G>A
XM_017002051.2:c.-962G>A	XP_016857540.1:n.-962G>A
XM_017002052.2:c.-962G>A	XP_016857541.1:n.-962G>A
XR_946739.1:n.126G>A
XR_946739.2:n.126G>A