Canonical Allele Identifier: CA339957935

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42754992T>C , CM000663.2:g.42754992T>C	GRCh38
NC_000001.10:g.43220663T>C , CM000663.1:g.43220663T>C	GRCh37
NC_000001.9:g.42993250T>C	NCBI36
NG_008123.1:g.17093A>G , LRG_5:g.17093A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1224-2A>G MANE Select	NP_071751.3:n.1224-2A>G
ENST00000296388.10:c.1224-2A>G MANE Select	ENSP00000296388.5:n.1224-2A>G
NM_001146289.1:c.1224-2A>G , LRG_5t2:c.1224-2A>G	NP_001139761.1:n.1224-2A>G
NM_001146289.2:c.1224-2A>G	NP_001139761.1:n.1224-2A>G
NM_001243246.1:c.1224-2A>G , LRG_5t3:c.1224-2A>G	NP_001230175.1:n.1224-2A>G
NM_001243246.2:c.1224-2A>G	NP_001230175.1:n.1224-2A>G
NM_022356.3:c.1224-2A>G , LRG_5t1:c.1224-2A>G	NP_071751.3:n.1224-2A>G
ENST00000236040.8:c.1224-2A>G	ENSP00000236040.4:n.1224-2A>G
ENST00000296388.9:c.1224-2A>G	ENSP00000296388.5:n.1224-2A>G
ENST00000397054.7:c.1224-2A>G	ENSP00000380245.3:n.1224-2A>G
ENST00000431412.3:c.46-2A>G
ENST00000460031.5:n.1414A>G
ENST00000463465.1:n.885A>G
ENST00000495874.5:n.1502A>G
XM_005271110.2:c.216-2A>G	XP_005271167.1:n.216-2A>G
XM_011541947.1:c.249-2A>G	XP_011540249.1:n.249-2A>G
XM_011541948.1:c.249-2A>G	XP_011540250.1:n.249-2A>G
XM_011541949.1:c.246-2A>G	XP_011540251.1:n.246-2A>G
XM_017002051.2:c.249-2A>G	XP_016857540.1:n.249-2A>G
XM_017002052.2:c.246-2A>G	XP_016857541.1:n.246-2A>G
XR_946739.1:n.1349-2A>G
XR_946739.2:n.1349-2A>G