Canonical Allele Identifier: CA339957504

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42754898G>C , CM000663.2:g.42754898G>C	GRCh38
NC_000001.10:g.43220569G>C , CM000663.1:g.43220569G>C	GRCh37
NC_000001.9:g.42993156G>C	NCBI36
NG_008123.1:g.17187C>G , LRG_5:g.17187C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1316C>G MANE Select	NP_071751.3:p.Ser439Ter
ENST00000296388.10:c.1316C>G MANE Select	ENSP00000296388.5:p.Ser439Ter
NM_001146289.1:c.1316C>G , LRG_5t2:c.1316C>G	NP_001139761.1:p.Ser439Ter
NM_001146289.2:c.1316C>G	NP_001139761.1:p.Ser439Ter
NM_001243246.1:c.1316C>G , LRG_5t3:c.1316C>G	NP_001230175.1:p.Ser439Ter
NM_001243246.2:c.1316C>G	NP_001230175.1:p.Ser439Ter
NM_022356.3:c.1316C>G , LRG_5t1:c.1316C>G	NP_071751.3:p.Ser439Ter
ENST00000236040.8:c.1316C>G	ENSP00000236040.4:p.Ser439Ter
ENST00000296388.9:c.1316C>G	ENSP00000296388.5:p.Ser439Ter
ENST00000397054.7:c.1316C>G	ENSP00000380245.3:p.Ser439Ter
ENST00000431412.3:c.138C>G
ENST00000447502.2:n.90C>G
ENST00000460031.5:n.1508C>G
ENST00000481465.3:n.39C>G
ENST00000495874.5:n.1596C>G
XM_005271110.2:c.308C>G	XP_005271167.1:p.Ser103Ter
XM_011541947.1:c.341C>G	XP_011540249.1:p.Ser114Ter
XM_011541948.1:c.341C>G	XP_011540250.1:p.Ser114Ter
XM_011541949.1:c.338C>G	XP_011540251.1:p.Ser113Ter
XM_017002051.2:c.341C>G	XP_016857540.1:p.Ser114Ter
XM_017002052.2:c.338C>G	XP_016857541.1:p.Ser113Ter
XR_946739.2:n.1441C>G