Canonical Allele Identifier: CA227632
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 65614
ClinVar RCV Id: RCV002515745
dbSNP Id: rs61748449
MyVariant Identifiers: chr19:g.48342853del (hg19) chr19:g.47839596del (hg38)
PubMed: PMID:20301475
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839596del , CM000681.2:g.47839596del GRCh38
NC_000019.9:g.48342853del , CM000681.1:g.48342853del GRCh37
NC_000019.8:g.53034665del NCBI36
NG_008605.1:g.22755del

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.529del MANE Select ENSP00000221996.5:p.Ala177LeufsTer10
ENST00000221996.11:c.529del ENSP00000221996.5:p.Ala177LeufsTer10
ENST00000539067.5:c.529del ENSP00000445565.1:p.Ala177LeufsTer10
ENST00000613299.1:c.*251del ENSP00000478106.1:n.*251del
NM_000554.4:c.529del NP_000545.1:p.Ala177LeufsTer10
NM_000554.5:c.529del NP_000545.1:p.Ala177LeufsTer10
NM_000554.6:c.529del MANE Select NP_000545.1:p.Ala177LeufsTer10
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