Canonical Allele Identifier: CA353055535

Gene: POC1A

Linked Data

• ClinVar Variation Id: 2095489
• ClinVar RCV Id: RCV003012356
• MyVariant Identifiers: chr3:g.52156412T>C (hg19) ; chr3:g.52122396T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52122396T>C , CM000665.2:g.52122396T>C	GRCh38
NC_000003.11:g.52156412T>C , CM000665.1:g.52156412T>C	GRCh37
NC_000003.10:g.52131452T>C	NCBI36
NG_032947.1:g.37295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296484.7:c.964A>G MANE Select	ENSP00000296484.2:p.Ser322Gly
ENST00000296484.6:c.964A>G	ENSP00000296484.2:p.Ser322Gly
ENST00000394970.6:c.964A>G	ENSP00000378421.2:p.Ser322Gly
ENST00000474012.1:c.850A>G	ENSP00000418968.1:p.Ser284Gly
NM_001161580.1:c.964A>G	NP_001155052.1:p.Ser322Gly
NM_001161581.1:c.850A>G	NP_001155053.1:p.Ser284Gly
NM_015426.4:c.964A>G	NP_056241.3:p.Ser322Gly
XM_011533560.1:c.882+2717A>G	XP_011531862.1:n.882+2717A>G
XM_011533561.1:c.882+2717A>G	XP_011531863.1:n.882+2717A>G
XM_011533563.1:c.*7+2717A>G	XP_011531865.1:n.*7+2717A>G
XM_011533564.1:c.*7+2717A>G	XP_011531866.1:n.*7+2717A>G
XR_940401.1:n.1004A>G
XR_940402.1:n.870A>G
XR_940403.1:n.870A>G
XM_011533564.3:c.*7+2717A>G	XP_011531866.1:n.*7+2717A>G
XM_017006104.1:c.850A>G	XP_016861593.1:p.Ser284Gly
XR_001740088.1:n.1004A>G
NM_001161580.2:c.964A>G	NP_001155052.1:p.Ser322Gly
NM_001161581.2:c.850A>G	NP_001155053.1:p.Ser284Gly
NM_015426.5:c.964A>G MANE Select	NP_056241.3:p.Ser322Gly