Canonical Allele Identifier: CA3310642

Gene: POC5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75707853T>C , CM000667.2:g.75707853T>C	GRCh38
NC_000005.9:g.75003678T>C , CM000667.1:g.75003678T>C	GRCh37
NC_000005.8:g.75039434T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428202.7:c.107A>G MANE Select	ENSP00000410216.2:p.His36Arg
ENST00000428202.6:c.107A>G	ENSP00000410216.2:p.His36Arg
ENST00000446329.6:c.32A>G	ENSP00000399481.2:p.His11Arg
ENST00000502826.5:c.-128-2066A>G	ENSP00000425726.1:n.-128-2066A>G
ENST00000503835.5:c.-245A>G	ENSP00000424264.1:n.-245A>G
ENST00000504862.5:n.91A>G
ENST00000506164.5:c.-128-2066A>G	ENSP00000425108.1:n.-128-2066A>G
ENST00000507421.1:n.219A>G
ENST00000508467.5:n.246A>G
ENST00000510798.5:c.-245A>G	ENSP00000426796.1:n.-245A>G
ENST00000512125.5:n.310A>G
ENST00000514838.6:c.107A>G	ENSP00000420971.1:p.His36Arg
ENST00000515285.5:c.166A>G	ENSP00000425885.1:p.Ile56Val
NM_001099271.1:c.107A>G	NP_001092741.1:p.His36Arg
NM_152408.2:c.32A>G	NP_689621.2:p.His11Arg
XM_005248436.1:c.107A>G	XP_005248493.1:p.His36Arg
XM_005248437.3:c.107A>G	XP_005248494.2:p.His36Arg
XM_011543158.1:c.107A>G	XP_011541460.1:p.His36Arg
XM_011543159.1:c.-245A>G	XP_011541461.1:n.-245A>G
XM_011543160.1:c.-245A>G	XP_011541462.1:n.-245A>G
XM_011543158.2:c.107A>G	XP_011541460.1:p.His36Arg
XM_017009037.2:c.107A>G	XP_016864526.1:p.His36Arg
XM_017009040.2:c.-128-2066A>G	XP_016864529.1:n.-128-2066A>G
XM_024454362.1:c.107A>G	XP_024310130.1:p.His36Arg
XM_024454363.1:c.-245A>G	XP_024310131.1:n.-245A>G
XR_001741999.1:n.304A>G
NM_001099271.2:c.107A>G MANE Select	NP_001092741.1:p.His36Arg
NM_152408.3:c.32A>G	NP_689621.2:p.His11Arg