Canonical Allele Identifier: CA74717026

Gene: POC1A

Linked Data

• ClinVar Variation Id: 2182770
• ClinVar RCV Id: RCV002611020
• dbSNP Id: rs760389462
• gnomAD v2: 3-52183414-A-G
• gnomAD v3: 3-52149398-A-G
• gnomAD v4: 3-52149398-A-G
• MyVariant Identifiers: chr3:g.52183414A>G (hg19) ; chr3:g.52149398A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52149398A>G , CM000665.2:g.52149398A>G	GRCh38
NC_000003.11:g.52183414A>G , CM000665.1:g.52183414A>G	GRCh37
NC_000003.10:g.52158454A>G	NCBI36
NG_032947.1:g.10293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296484.7:c.276-9T>C MANE Select	ENSP00000296484.2:n.276-9T>C
ENST00000296484.6:c.276-9T>C	ENSP00000296484.2:n.276-9T>C
ENST00000394970.6:c.276-9T>C	ENSP00000378421.2:n.276-9T>C
ENST00000474012.1:c.162-9T>C	ENSP00000418968.1:n.162-9T>C
NM_001161580.1:c.276-9T>C	NP_001155052.1:n.276-9T>C
NM_001161581.1:c.162-9T>C	NP_001155053.1:n.162-9T>C
NM_015426.4:c.276-9T>C	NP_056241.3:n.276-9T>C
XM_011533560.1:c.276-9T>C	XP_011531862.1:n.276-9T>C
XM_011533561.1:c.276-9T>C	XP_011531863.1:n.276-9T>C
XM_011533562.1:c.276-9T>C	XP_011531864.1:n.276-9T>C
XM_011533563.1:c.276-9T>C	XP_011531865.1:n.276-9T>C
XM_011533564.1:c.276-9T>C	XP_011531866.1:n.276-9T>C
XM_011533565.1:c.276-9T>C	XP_011531867.1:n.276-9T>C
XR_940401.1:n.316-9T>C
XR_940402.1:n.316-9T>C
XR_940403.1:n.316-9T>C
XM_011533562.2:c.276-9T>C	XP_011531864.1:n.276-9T>C
XM_011533564.3:c.276-9T>C	XP_011531866.1:n.276-9T>C
XM_011533565.2:c.276-9T>C	XP_011531867.1:n.276-9T>C
XM_017006104.1:c.162-9T>C	XP_016861593.1:n.162-9T>C
XR_001740088.1:n.316-9T>C
NM_001161580.2:c.276-9T>C	NP_001155052.1:n.276-9T>C
NM_001161581.2:c.162-9T>C	NP_001155053.1:n.162-9T>C
NM_015426.5:c.276-9T>C MANE Select	NP_056241.3:n.276-9T>C