Canonical Allele Identifier: CA10648925

Gene: CRX

Linked Data

• ClinVar Variation Id: 329749
• ClinVar RCV Id: RCV000278381 ; RCV000351076 ; RCV000389164
• dbSNP Id: rs557773336
• gnomAD v2: 19-48345141-G-A
• gnomAD v3: 19-47841884-G-A
• gnomAD v4: 19-47841884-G-A
• MyVariant Identifiers: chr19:g.48345141G>A (hg19) ; chr19:g.47841884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47841884G>A , CM000681.2:g.47841884G>A	GRCh38
NC_000019.9:g.48345141G>A , CM000681.1:g.48345141G>A	GRCh37
NC_000019.8:g.53036953G>A	NCBI36
NG_008605.1:g.25043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.*1917G>A MANE Select	ENSP00000221996.5:n.*1917G>A
ENST00000221996.11:c.*1917G>A	ENSP00000221996.5:n.*1917G>A
ENST00000539067.5:c.*467-670G>A	ENSP00000445565.1:n.*467-670G>A
ENST00000602001.1:n.46-628G>A
ENST00000613299.1:c.*2539G>A	ENSP00000478106.1:n.*2539G>A
NM_000554.4:c.*1917G>A	NP_000545.1:n.*1917G>A
NM_000554.5:c.*1917G>A	NP_000545.1:n.*1917G>A
NM_000554.6:c.*1917G>A MANE Select	NP_000545.1:n.*1917G>A