Canonical Allele Identifier: CA10652624

Gene: CRX

Linked Data

• ClinVar Variation Id: 329702
• ClinVar RCV Id: RCV000293631 ; RCV000348576 ; RCV000401350
• dbSNP Id: rs543729483
• gnomAD v2: 19-48343342-C-A
• gnomAD v3: 19-47840085-C-A
• gnomAD v4: 19-47840085-C-A
• MyVariant Identifiers: chr19:g.48343342C>A (hg19) ; chr19:g.47840085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47840085C>A , CM000681.2:g.47840085C>A	GRCh38
NC_000019.9:g.48343342C>A , CM000681.1:g.48343342C>A	GRCh37
NC_000019.8:g.53035154C>A	NCBI36
NG_008605.1:g.23244C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.*118C>A MANE Select	ENSP00000221996.5:n.*118C>A
ENST00000221996.11:c.*118C>A	ENSP00000221996.5:n.*118C>A
ENST00000539067.5:c.*118C>A	ENSP00000445565.1:n.*118C>A
ENST00000613299.1:c.*740C>A	ENSP00000478106.1:n.*740C>A
NM_000554.4:c.*118C>A	NP_000545.1:n.*118C>A
NM_000554.5:c.*118C>A	NP_000545.1:n.*118C>A
NM_000554.6:c.*118C>A MANE Select	NP_000545.1:n.*118C>A