Canonical Allele Identifier: CA339959116
Community Standard Title: NM_022356.4(P3H1):c.941-2A>T
Gene: P3H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42757924T>A , CM000663.2:g.42757924T>A GRCh38
NC_000001.10:g.43223595T>A , CM000663.1:g.43223595T>A GRCh37
NC_000001.9:g.42996182T>A NCBI36
NG_008123.1:g.14161A>T , LRG_5:g.14161A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022356.4:c.941-2A>T MANE Select NP_071751.3:n.941-2A>T
ENST00000296388.10:c.941-2A>T MANE Select ENSP00000296388.5:n.941-2A>T
NM_001146289.1:c.941-2A>T , LRG_5t2:c.941-2A>T NP_001139761.1:n.941-2A>T
NM_001146289.2:c.941-2A>T NP_001139761.1:n.941-2A>T
NM_001243246.1:c.941-2A>T , LRG_5t3:c.941-2A>T NP_001230175.1:n.941-2A>T
NM_001243246.2:c.941-2A>T NP_001230175.1:n.941-2A>T
NM_022356.3:c.941-2A>T , LRG_5t1:c.941-2A>T NP_071751.3:n.941-2A>T
ENST00000236040.8:c.941-2A>T ENSP00000236040.4:n.941-2A>T
ENST00000296388.9:c.941-2A>T ENSP00000296388.5:n.941-2A>T
ENST00000397054.7:c.941-2A>T ENSP00000380245.3:n.941-2A>T
ENST00000460031.5:n.959-2A>T
ENST00000463465.1:n.428A>T
ENST00000495874.5:n.992-2A>T
XM_005271110.2:c.-68-2A>T XP_005271167.1:n.-68-2A>T
XM_011541947.1:c.-90-2A>T XP_011540249.1:n.-90-2A>T
XM_011541948.1:c.-90-2A>T XP_011540250.1:n.-90-2A>T
XM_011541949.1:c.-90-2A>T XP_011540251.1:n.-90-2A>T
XM_017002051.2:c.-90-2A>T XP_016857540.1:n.-90-2A>T
XM_017002052.2:c.-90-2A>T XP_016857541.1:n.-90-2A>T
XR_946739.1:n.998-2A>T
XR_946739.2:n.998-2A>T