Canonical Allele Identifier: CA227637

Gene: CRX

Linked Data

• ClinVar Variation Id: 99615
• ClinVar RCV Id: RCV000086012
• dbSNP Id: rs61748453
• MyVariant Identifiers: chr19:g.48342909dupC (hg19) ; chr19:g.47839652dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839652dup , CM000681.2:g.47839652dup	GRCh38
NC_000019.9:g.48342909dup , CM000681.1:g.48342909dup	GRCh37
NC_000019.8:g.53034721dup	NCBI36
NG_008605.1:g.22811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.585dup MANE Select	ENSP00000221996.5:p.Ala196ArgfsTer?
ENST00000221996.11:c.585dup	ENSP00000221996.5:p.Ala196ArgfsTer?
ENST00000539067.5:c.585dup	ENSP00000445565.1:p.Ala196ArgfsTer?
ENST00000613299.1:c.*307dup	ENSP00000478106.1:n.*307dup
NM_000554.4:c.585dup	NP_000545.1:p.Ala196ArgfsTer?
NM_000554.5:c.585dup	NP_000545.1:p.Ala196ArgfsTer?
NM_000554.6:c.585dup MANE Select	NP_000545.1:p.Ala196ArgfsTer?