Canonical Allele Identifier: CA415308304
Gene: OPN1LW HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.154156369A>C
GRCh37 chrX:g.153421844A>C
Revel Score:
ENST00000369951 (MANE Select) 0.252
gnomAD v3:
X:154156369 A / C
gnomAD v4:
chrX-154156369-A-C
Joint Max Group AF 0.00000105 (NFE)
Genomes Max Group AF 0.00000632 (NFE)
Exomes Max Group AF 4e-7 (NFE)
dbSNP:
2315122
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154156369A>C , CM000685.2:g.154156369A>C GRCh38
NC_000023.10:g.153421844A>C , CM000685.1:g.153421844A>C GRCh37
NC_000023.9:g.153075038A>C NCBI36
NG_009105.2:g.17119A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369951.9:c.820A>C MANE Select ENSP00000358967.4:p.Ile274Leu
ENST00000369951.8:c.820A>C ENSP00000358967.4:p.Ile274Leu
ENST00000442922.1:c.384+25A>C ENSP00000402493.1:n.384+25A>C
ENST00000463296.1:n.664A>C
NM_020061.5:c.820A>C NP_064445.2:p.Ile274Leu
NM_020061.6:c.820A>C MANE Select NP_064445.2:p.Ile274Leu
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