Canonical Allele Identifier: CA802241

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42766910T>C , CM000663.2:g.42766910T>C	GRCh38
NC_000001.10:g.43232581T>C , CM000663.1:g.43232581T>C	GRCh37
NC_000001.9:g.43005168T>C	NCBI36
NG_008123.1:g.5175A>G , LRG_5:g.5175A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.62A>G MANE Select	NP_071751.3:p.Gln21Arg
ENST00000296388.10:c.62A>G MANE Select	ENSP00000296388.5:p.Gln21Arg
NM_001146289.1:c.62A>G , LRG_5t2:c.62A>G	NP_001139761.1:p.Gln21Arg
NM_001146289.2:c.62A>G	NP_001139761.1:p.Gln21Arg
NM_001243246.1:c.62A>G , LRG_5t3:c.62A>G	NP_001230175.1:p.Gln21Arg
NM_001243246.2:c.62A>G	NP_001230175.1:p.Gln21Arg
NM_022356.3:c.62A>G , LRG_5t1:c.62A>G	NP_071751.3:p.Gln21Arg
ENST00000236040.8:c.62A>G	ENSP00000236040.4:p.Gln21Arg
ENST00000296388.9:c.62A>G	ENSP00000296388.5:p.Gln21Arg
ENST00000372526.2:c.62A>G	ENSP00000361604.2:p.Gln21Arg
ENST00000397054.7:c.62A>G	ENSP00000380245.3:p.Gln21Arg
ENST00000460031.5:n.80A>G
ENST00000492956.1:n.108A>G
ENST00000495874.5:n.113A>G
XM_017002051.2:c.-969A>G	XP_016857540.1:n.-969A>G
XM_017002052.2:c.-969A>G	XP_016857541.1:n.-969A>G
XR_946739.1:n.119A>G
XR_946739.2:n.119A>G