Canonical Allele Identifier: CA339953253

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42747721A>G , CM000663.2:g.42747721A>G	GRCh38
NC_000001.10:g.43213392A>G , CM000663.1:g.43213392A>G	GRCh37
NC_000001.9:g.42985979A>G	NCBI36
NG_008123.1:g.24364T>C , LRG_5:g.24364T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.1914+2T>C MANE Select	NP_071751.3:n.1914+2T>C
ENST00000296388.10:c.1914+2T>C MANE Select	ENSP00000296388.5:n.1914+2T>C
NM_001146289.1:c.1914+2T>C , LRG_5t2:c.1914+2T>C	NP_001139761.1:n.1914+2T>C
NM_001146289.2:c.1914+2T>C	NP_001139761.1:n.1914+2T>C
NM_001243246.1:c.1914+2T>C , LRG_5t3:c.1914+2T>C	NP_001230175.1:n.1914+2T>C
NM_001243246.2:c.1914+2T>C	NP_001230175.1:n.1914+2T>C
NM_022356.3:c.1914+2T>C , LRG_5t1:c.1914+2T>C	NP_071751.3:n.1914+2T>C
ENST00000236040.8:c.1914+2T>C	ENSP00000236040.4:n.1914+2T>C
ENST00000296388.9:c.1914+2T>C	ENSP00000296388.5:n.1914+2T>C
ENST00000397054.7:c.1914+2T>C	ENSP00000380245.3:n.1914+2T>C
ENST00000460031.5:n.2106+2T>C
ENST00000462474.5:n.76+2T>C
ENST00000495874.5:n.2194+2T>C
XM_005271110.2:c.906+2T>C	XP_005271167.1:n.906+2T>C
XM_011541947.1:c.939+2T>C	XP_011540249.1:n.939+2T>C
XM_011541948.1:c.939+2T>C	XP_011540250.1:n.939+2T>C
XM_011541949.1:c.936+2T>C	XP_011540251.1:n.936+2T>C
XM_017002051.2:c.939+2T>C	XP_016857540.1:n.939+2T>C
XM_017002052.2:c.936+2T>C	XP_016857541.1:n.936+2T>C