Canonical Allele Identifier: CA339954677

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42750185C>T , CM000663.2:g.42750185C>T	GRCh38
NC_000001.10:g.43215856C>T , CM000663.1:g.43215856C>T	GRCh37
NC_000001.9:g.42988443C>T	NCBI36
NG_008123.1:g.21900G>A , LRG_5:g.21900G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1720+1G>A MANE Select	NP_071751.3:n.1720+1G>A
ENST00000296388.10:c.1720+1G>A MANE Select	ENSP00000296388.5:n.1720+1G>A
NM_001146289.1:c.1720+1G>A , LRG_5t2:c.1720+1G>A	NP_001139761.1:n.1720+1G>A
NM_001146289.2:c.1720+1G>A	NP_001139761.1:n.1720+1G>A
NM_001243246.1:c.1720+1G>A , LRG_5t3:c.1720+1G>A	NP_001230175.1:n.1720+1G>A
NM_001243246.2:c.1720+1G>A	NP_001230175.1:n.1720+1G>A
NM_022356.3:c.1720+1G>A , LRG_5t1:c.1720+1G>A	NP_071751.3:n.1720+1G>A
ENST00000236040.8:c.1720+1G>A	ENSP00000236040.4:n.1720+1G>A
ENST00000296388.9:c.1720+1G>A	ENSP00000296388.5:n.1720+1G>A
ENST00000397054.7:c.1720+1G>A	ENSP00000380245.3:n.1720+1G>A
ENST00000431412.3:c.642+1G>A
ENST00000460031.5:n.1912+1G>A
ENST00000481465.3:n.444G>A
ENST00000495874.5:n.2000+1G>A
XM_005271110.2:c.712+1G>A	XP_005271167.1:n.712+1G>A
XM_011541947.1:c.745+1G>A	XP_011540249.1:n.745+1G>A
XM_011541948.1:c.745+1G>A	XP_011540250.1:n.745+1G>A
XM_011541949.1:c.742+1G>A	XP_011540251.1:n.742+1G>A
XM_017002051.2:c.745+1G>A	XP_016857540.1:n.745+1G>A
XM_017002052.2:c.742+1G>A	XP_016857541.1:n.742+1G>A
XR_946739.2:n.1845+1G>A