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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:
CA255281
Gene: OPN1LW
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10506
ClinVar RCV Id:
RCV000011252
dbSNP Id:
rs104894913
MyVariant Identifiers:
chrX:g.153424319G>A (hg19)
chrX:g.154158844G>A (hg38)
PubMed:
PMID:12051694
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154158844G>A , CM000685.2:g.154158844G>A
GRCh38
NC_000023.10:g.153424319G>A , CM000685.1:g.153424319G>A
GRCh37
NC_000023.9:g.153077513G>A
NCBI36
NG_009105.2:g.19594G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000369951.9:c.1013G>A
MANE Select
ENSP00000358967.4:p.Gly338Glu
ENST00000369951.8:c.1013G>A
ENSP00000358967.4:p.Gly338Glu
ENST00000442922.1:c.413G>A
ENSP00000402493.1:p.Gly138Glu
NM_020061.5:c.1013G>A
NP_064445.2:p.Gly338Glu
NM_020061.6:c.1013G>A
MANE Select
NP_064445.2:p.Gly338Glu
Search 100 bp 5'
Search 100 bp 3'