Canonical Allele Identifier: CA212759

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42747254C>T , CM000663.2:g.42747254C>T	GRCh38
NC_000001.10:g.43212925C>T , CM000663.1:g.43212925C>T	GRCh37
NC_000001.9:g.42985512C>T	NCBI36
NG_008123.1:g.24831G>A , LRG_5:g.24831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.2055+18G>A MANE Select	ENSP00000296388.5:n.2055+18G>A
ENST00000236040.8:c.2073G>A	ENSP00000236040.4:p.Ala691=
ENST00000296388.9:c.2055+18G>A	ENSP00000296388.5:n.2055+18G>A
ENST00000397054.7:c.2073G>A	ENSP00000380245.3:p.Ala691=
ENST00000460031.5:n.2247+18G>A
ENST00000462474.5:n.235G>A
ENST00000472802.1:n.323G>A
ENST00000495874.5:n.2335+18G>A
NM_001146289.1:c.2073G>A , LRG_5t2:c.2073G>A	NP_001139761.1:p.Ala691=
NM_001243246.1:c.2073G>A , LRG_5t3:c.2073G>A	NP_001230175.1:p.Ala691=
NM_022356.3:c.2055+18G>A , LRG_5t1:c.2055+18G>A	NP_071751.3:n.2055+18G>A
XM_005271110.2:c.1047+18G>A	XP_005271167.1:n.1047+18G>A
XM_011541947.1:c.1080+18G>A	XP_011540249.1:n.1080+18G>A
XM_011541948.1:c.1080+18G>A	XP_011540250.1:n.1080+18G>A
XM_011541949.1:c.1077+18G>A	XP_011540251.1:n.1077+18G>A
XM_017002051.2:c.1080+18G>A	XP_016857540.1:n.1080+18G>A
XM_017002052.2:c.1077+18G>A	XP_016857541.1:n.1077+18G>A
NM_022356.4:c.2055+18G>A MANE Select	NP_071751.3:n.2055+18G>A
NM_001146289.2:c.2073G>A	NP_001139761.1:p.Ala691=
NM_001243246.2:c.2073G>A	NP_001230175.1:p.Ala691=