Canonical Allele Identifier: CA802228

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42766833C>A , CM000663.2:g.42766833C>A	GRCh38
NC_000001.10:g.43232504C>A , CM000663.1:g.43232504C>A	GRCh37
NC_000001.9:g.43005091C>A	NCBI36
NG_008123.1:g.5252G>T , LRG_5:g.5252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.139G>T MANE Select	ENSP00000296388.5:p.Ala47Ser
ENST00000236040.8:c.139G>T	ENSP00000236040.4:p.Ala47Ser
ENST00000296388.9:c.139G>T	ENSP00000296388.5:p.Ala47Ser
ENST00000372526.2:c.139G>T	ENSP00000361604.2:p.Ala47Ser
ENST00000397054.7:c.139G>T	ENSP00000380245.3:p.Ala47Ser
ENST00000460031.5:n.157G>T
ENST00000492956.1:n.185G>T
ENST00000495874.5:n.190G>T
NM_001146289.1:c.139G>T , LRG_5t2:c.139G>T	NP_001139761.1:p.Ala47Ser
NM_001243246.1:c.139G>T , LRG_5t3:c.139G>T	NP_001230175.1:p.Ala47Ser
NM_022356.3:c.139G>T , LRG_5t1:c.139G>T	NP_071751.3:p.Ala47Ser
XR_946739.1:n.196G>T
XM_017002051.2:c.-892G>T	XP_016857540.1:n.-892G>T
XM_017002052.2:c.-892G>T	XP_016857541.1:n.-892G>T
XR_946739.2:n.196G>T
NM_022356.4:c.139G>T MANE Select	NP_071751.3:p.Ala47Ser
NM_001146289.2:c.139G>T	NP_001139761.1:p.Ala47Ser
NM_001243246.2:c.139G>T	NP_001230175.1:p.Ala47Ser