Canonical Allele Identifier: CA658799258

Gene: CRX

Linked Data

• ClinVar Variation Id: 523984
• ClinVar RCV Id: RCV000627476
• dbSNP Id: rs1555801777
• MyVariant Identifiers: chr19:g.48339563dup (hg19) ; chr19:g.47836306dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47836306dup , CM000681.2:g.47836306dup	GRCh38
NC_000019.9:g.48339563dup , CM000681.1:g.48339563dup	GRCh37
NC_000019.8:g.53031375dup	NCBI36
NG_008605.1:g.19465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.164dup MANE Select	ENSP00000221996.5:p.Ala56GlyfsTer15
ENST00000221996.11:c.164dup	ENSP00000221996.5:p.Ala56GlyfsTer15
ENST00000539067.5:c.164dup	ENSP00000445565.1:p.Ala56GlyfsTer15
ENST00000556527.1:n.141dup
ENST00000566686.5:c.164dup	ENSP00000457808.2:p.Ala56GlyfsTer?
ENST00000613299.1:c.100+1763dup	ENSP00000478106.1:n.100+1763dup
NM_000554.4:c.164dup	NP_000545.1:p.Ala56GlyfsTer15
NM_000554.5:c.164dup	NP_000545.1:p.Ala56GlyfsTer15
NM_000554.6:c.164dup MANE Select	NP_000545.1:p.Ala56GlyfsTer15