Canonical Allele Identifier: CA415313612
Gene: OPN1MW HGNC NCBI

Linked Data

dbSNP Id: rs2067108987
gnomAD v4: X-154188001-T-C
MyVariant Identifiers: chrX:g.153453490T>C (hg19) chrX:g.154188001T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154188001T>C , CM000685.2:g.154188001T>C GRCh38
NC_000023.10:g.153453490T>C , CM000685.1:g.153453490T>C GRCh37
NG_011606.1:g.10406T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.344T>C MANE Select ENSP00000472316.1:p.Val115Ala
ENST00000595290.5:c.344T>C ENSP00000472316.1:p.Val115Ala
ENST00000595330.1:n.354T>C
NM_000513.2:c.344T>C MANE Select NP_000504.1:p.Val115Ala
Search 100 bp 5'
Search 100 bp 3'