Canonical Allele Identifier: CA339963435

Gene: P3H1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42766534G>C , CM000663.2:g.42766534G>C	GRCh38
NC_000001.10:g.43232205G>C , CM000663.1:g.43232205G>C	GRCh37
NC_000001.9:g.43004792G>C	NCBI36
NG_008123.1:g.5551C>G , LRG_5:g.5551C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022356.4:c.438C>G MANE Select	NP_071751.3:p.Tyr146Ter
ENST00000296388.10:c.438C>G MANE Select	ENSP00000296388.5:p.Tyr146Ter
NM_001146289.1:c.438C>G , LRG_5t2:c.438C>G	NP_001139761.1:p.Tyr146Ter
NM_001146289.2:c.438C>G	NP_001139761.1:p.Tyr146Ter
NM_001243246.1:c.438C>G , LRG_5t3:c.438C>G	NP_001230175.1:p.Tyr146Ter
NM_001243246.2:c.438C>G	NP_001230175.1:p.Tyr146Ter
NM_022356.3:c.438C>G , LRG_5t1:c.438C>G	NP_071751.3:p.Tyr146Ter
ENST00000236040.8:c.438C>G	ENSP00000236040.4:p.Tyr146Ter
ENST00000296388.9:c.438C>G	ENSP00000296388.5:p.Tyr146Ter
ENST00000372526.2:c.438C>G	ENSP00000361604.2:p.Tyr146Ter
ENST00000397054.7:c.438C>G	ENSP00000380245.3:p.Tyr146Ter
ENST00000460031.5:n.456C>G
ENST00000492956.1:n.484C>G
ENST00000495874.5:n.489C>G
XM_017002051.2:c.-593C>G	XP_016857540.1:n.-593C>G
XM_017002052.2:c.-593C>G	XP_016857541.1:n.-593C>G
XR_946739.1:n.495C>G
XR_946739.2:n.495C>G