Canonical Allele Identifier: CA10643051

Gene: CRX

Linked Data

• ClinVar Variation Id: 329715
• ClinVar RCV Id: RCV000283255 ; RCV000342965 ; RCV000377666
• dbSNP Id: rs111448395
• gnomAD v2: 19-48343819-C-T
• gnomAD v3: 19-47840562-C-T
• gnomAD v4: 19-47840562-C-T
• MyVariant Identifiers: chr19:g.48343819C>T (hg19) ; chr19:g.47840562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47840562C>T , CM000681.2:g.47840562C>T	GRCh38
NC_000019.9:g.48343819C>T , CM000681.1:g.48343819C>T	GRCh37
NC_000019.8:g.53035631C>T	NCBI36
NG_008605.1:g.23721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.*595C>T MANE Select	ENSP00000221996.5:n.*595C>T
ENST00000221996.11:c.*595C>T	ENSP00000221996.5:n.*595C>T
ENST00000539067.5:c.*466+129C>T	ENSP00000445565.1:n.*466+129C>T
ENST00000613299.1:c.*1217C>T	ENSP00000478106.1:n.*1217C>T
NM_000554.4:c.*595C>T	NP_000545.1:n.*595C>T
NM_000554.5:c.*595C>T	NP_000545.1:n.*595C>T
NM_000554.6:c.*595C>T MANE Select	NP_000545.1:n.*595C>T