Canonical Allele Identifier: CA227619

Gene: CRX

Linked Data

• ClinVar Variation Id: 99600
• ClinVar RCV Id: RCV000085996 ; RCV000282603 ; RCV000374438 ; RCV000335244 ; RCV001512740
• dbSNP Id: rs145805694
• ExAC: 19:48342562 G / A
• gnomAD v2: 19-48342562-G-A
• gnomAD v3: 19-47839305-G-A
• gnomAD v4: 19-47839305-G-A
• MyVariant Identifiers: chr19:g.48342562G>A (hg19) ; chr19:g.47839305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839305G>A , CM000681.2:g.47839305G>A	GRCh38
NC_000019.9:g.48342562G>A , CM000681.1:g.48342562G>A	GRCh37
NC_000019.8:g.53034374G>A	NCBI36
NG_008605.1:g.22464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.253-15G>A MANE Select	ENSP00000221996.5:n.253-15G>A
ENST00000221996.11:c.253-15G>A	ENSP00000221996.5:n.253-15G>A
ENST00000539067.5:c.253-15G>A	ENSP00000445565.1:n.253-15G>A
ENST00000613299.1:c.101-15G>A	ENSP00000478106.1:n.101-15G>A
NM_000554.4:c.253-15G>A	NP_000545.1:n.253-15G>A
NM_000554.5:c.253-15G>A	NP_000545.1:n.253-15G>A
NM_000554.6:c.253-15G>A MANE Select	NP_000545.1:n.253-15G>A