Canonical Allele Identifier: CA16621743
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 425193
dbSNP Id: rs1064797247
COSMIC: COSM368705

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839730C>A , CM000681.2:g.47839730C>A GRCh38
NC_000019.9:g.48342987C>A , CM000681.1:g.48342987C>A GRCh37
NC_000019.8:g.53034799C>A NCBI36
NG_008605.1:g.22889C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.663C>A MANE Select ENSP00000221996.5:p.Tyr221Ter
ENST00000221996.11:c.663C>A ENSP00000221996.5:p.Tyr221Ter
ENST00000539067.5:c.663C>A ENSP00000445565.1:p.Tyr221Ter
ENST00000613299.1:c.*385C>A ENSP00000478106.1:n.*385C>A
NM_000554.4:c.663C>A NP_000545.1:p.Tyr221Ter
NM_000554.5:c.663C>A NP_000545.1:p.Tyr221Ter
NM_000554.6:c.663C>A MANE Select NP_000545.1:p.Tyr221Ter