Canonical Allele Identifier: CA10631195
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 299202
ClinVar RCV Id: RCV000293715 RCV000329804
dbSNP Id: rs71492279
gnomAD v2: 10-13142153-T-C
gnomAD v3: 10-13100153-T-C
gnomAD v4: 10-13100153-T-C
MyVariant Identifiers: chr10:g.13142153T>C (hg19) chr10:g.13100153T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13100153T>C , CM000672.2:g.13100153T>C GRCh38
NC_000010.10:g.13142153T>C , CM000672.1:g.13142153T>C GRCh37
NC_000010.9:g.13182159T>C NCBI36
NG_012876.1:g.5072T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263036.9:c.-164+195T>C ENSP00000263036.3:n.-164+195T>C
ENST00000378764.6:c.-164+195T>C ENSP00000368040.1:n.-164+195T>C
NM_001008211.1:c.-382T>C NP_001008212.1:n.-382T>C
NM_001008212.1:c.-313T>C NP_001008213.1:n.-313T>C
NM_001008213.1:c.-367T>C NP_001008214.1:n.-367T>C
NM_021980.4:c.-161T>C NP_068815.2:n.-161T>C
XM_005252336.2:c.-161T>C XP_005252393.2:n.-161T>C
XM_005252337.3:c.-367T>C XP_005252394.2:n.-367T>C
XM_005252338.2:c.-426T>C XP_005252395.2:n.-426T>C
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