Canonical Allele Identifier: CA802265

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42767016G>A , CM000663.2:g.42767016G>A	GRCh38
NC_000001.10:g.43232687G>A , CM000663.1:g.43232687G>A	GRCh37
NC_000001.9:g.43005274G>A	NCBI36
NG_008123.1:g.5069C>T , LRG_5:g.5069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.-45C>T MANE Select	ENSP00000296388.5:n.-45C>T
ENST00000296388.9:c.-45C>T	ENSP00000296388.5:n.-45C>T
ENST00000397054.7:c.-45C>T	ENSP00000380245.3:n.-45C>T
ENST00000492956.1:n.2C>T
ENST00000495874.5:n.7C>T
NM_001146289.1:c.-45C>T , LRG_5t2:c.-45C>T	NP_001139761.1:n.-45C>T
NM_001243246.1:c.-45C>T , LRG_5t3:c.-45C>T	NP_001230175.1:n.-45C>T
NM_022356.3:c.-45C>T , LRG_5t1:c.-45C>T	NP_071751.3:n.-45C>T
XR_946739.1:n.13C>T
XM_017002051.2:c.-1075C>T	XP_016857540.1:n.-1075C>T
XR_946739.2:n.13C>T
NM_022356.4:c.-45C>T MANE Select	NP_071751.3:n.-45C>T
NM_001146289.2:c.-45C>T	NP_001139761.1:n.-45C>T
NM_001243246.2:c.-45C>T	NP_001230175.1:n.-45C>T