Canonical Allele Identifier: CA10652632

Gene: CRX

Linked Data

• ClinVar Variation Id: 329723
• ClinVar RCV Id: RCV000311981 ; RCV000352814 ; RCV000390415
• dbSNP Id: rs544037698
• gnomAD v2: 19-48343991-G-A
• gnomAD v3: 19-47840734-G-A
• gnomAD v4: 19-47840734-G-A
• MyVariant Identifiers: chr19:g.48343991G>A (hg19) ; chr19:g.47840734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47840734G>A , CM000681.2:g.47840734G>A	GRCh38
NC_000019.9:g.48343991G>A , CM000681.1:g.48343991G>A	GRCh37
NC_000019.8:g.53035803G>A	NCBI36
NG_008605.1:g.23893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.*767G>A MANE Select	ENSP00000221996.5:n.*767G>A
ENST00000221996.11:c.*767G>A	ENSP00000221996.5:n.*767G>A
ENST00000539067.5:c.*466+301G>A	ENSP00000445565.1:n.*466+301G>A
ENST00000602001.1:n.25G>A
ENST00000613299.1:c.*1389G>A	ENSP00000478106.1:n.*1389G>A
NM_000554.4:c.*767G>A	NP_000545.1:n.*767G>A
NM_000554.5:c.*767G>A	NP_000545.1:n.*767G>A
NM_000554.6:c.*767G>A MANE Select	NP_000545.1:n.*767G>A