Canonical Allele Identifier: CA360151102

Gene: POC5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428202.7:c.107A>C MANE Select	ENSP00000410216.2:p.His36Pro
ENST00000428202.6:c.107A>C	ENSP00000410216.2:p.His36Pro
ENST00000446329.6:c.32A>C	ENSP00000399481.2:p.His11Pro
ENST00000502826.5:c.-128-2066A>C	ENSP00000425726.1:n.-128-2066A>C
ENST00000503835.5:c.-245A>C	ENSP00000424264.1:n.-245A>C
ENST00000504862.5:n.91A>C
ENST00000506164.5:c.-128-2066A>C	ENSP00000425108.1:n.-128-2066A>C
ENST00000507421.1:n.219A>C
ENST00000508467.5:n.246A>C
ENST00000510798.5:c.-245A>C	ENSP00000426796.1:n.-245A>C
ENST00000512125.5:n.310A>C
ENST00000514838.6:c.107A>C	ENSP00000420971.1:p.His36Pro
ENST00000515285.5:c.166A>C	ENSP00000425885.1:p.Ile56Leu
NM_001099271.1:c.107A>C	NP_001092741.1:p.His36Pro
NM_152408.2:c.32A>C	NP_689621.2:p.His11Pro
XM_005248436.1:c.107A>C	XP_005248493.1:p.His36Pro
XM_005248437.3:c.107A>C	XP_005248494.2:p.His36Pro
XM_011543158.1:c.107A>C	XP_011541460.1:p.His36Pro
XM_011543159.1:c.-245A>C	XP_011541461.1:n.-245A>C
XM_011543160.1:c.-245A>C	XP_011541462.1:n.-245A>C
XM_011543158.2:c.107A>C	XP_011541460.1:p.His36Pro
XM_017009037.2:c.107A>C	XP_016864526.1:p.His36Pro
XM_017009040.2:c.-128-2066A>C	XP_016864529.1:n.-128-2066A>C
XM_024454362.1:c.107A>C	XP_024310130.1:p.His36Pro
XM_024454363.1:c.-245A>C	XP_024310131.1:n.-245A>C
XR_001741999.1:n.304A>C
NM_001099271.2:c.107A>C MANE Select	NP_001092741.1:p.His36Pro
NM_152408.3:c.32A>C	NP_689621.2:p.His11Pro