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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA415309232
Gene: OPN1LW
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.153424325A>G (hg19)
chrX:g.154158850A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154158850A>G , CM000685.2:g.154158850A>G
GRCh38
NC_000023.10:g.153424325A>G , CM000685.1:g.153424325A>G
GRCh37
NC_000023.9:g.153077519A>G
NCBI36
NG_009105.2:g.19600A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000369951.9:c.1019A>G
MANE Select
ENSP00000358967.4:p.Lys340Arg
ENST00000369951.8:c.1019A>G
ENSP00000358967.4:p.Lys340Arg
ENST00000442922.1:c.419A>G
ENSP00000402493.1:p.Lys140Arg
NM_020061.5:c.1019A>G
NP_064445.2:p.Lys340Arg
NM_020061.6:c.1019A>G
MANE Select
NP_064445.2:p.Lys340Arg
Search 100 bp 5'
Search 100 bp 3'