Canonical Allele Identifier: CA2339609258
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 1013687
ClinVar RCV Id: RCV001312312
dbSNP Id: rs864309707
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839727dup , CM000681.2:g.47839727dup GRCh38
NC_000019.9:g.48342984dup , CM000681.1:g.48342984dup GRCh37
NC_000019.8:g.53034796dup NCBI36
NG_008605.1:g.22886dup

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.660dup MANE Select ENSP00000221996.5:p.Tyr221LeufsTer15
ENST00000221996.11:c.660dup ENSP00000221996.5:p.Tyr221LeufsTer15
ENST00000539067.5:c.660dup ENSP00000445565.1:p.Tyr221LeufsTer15
ENST00000613299.1:c.*382dup ENSP00000478106.1:n.*382dup
NM_000554.4:c.660dup NP_000545.1:p.Tyr221LeufsTer15
NM_000554.5:c.660dup NP_000545.1:p.Tyr221LeufsTer15
NM_000554.6:c.660dup MANE Select NP_000545.1:p.Tyr221LeufsTer15
Search 100 bp 5'
Search 100 bp 3'