Canonical Allele Identifier: CA9544590

Gene: CRX

Linked Data

• ClinVar Variation Id: 329700
• ClinVar RCV Id: RCV000283331 ; RCV000340719 ; RCV000383663
• dbSNP Id: rs375770558
• ExAC: 19:48343230 G / A
• gnomAD v2: 19-48343230-G-A
• gnomAD v3: 19-47839973-G-A
• gnomAD v4: 19-47839973-G-A
• MyVariant Identifiers: chr19:g.48343230G>A (hg19) ; chr19:g.47839973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839973G>A , CM000681.2:g.47839973G>A	GRCh38
NC_000019.9:g.48343230G>A , CM000681.1:g.48343230G>A	GRCh37
NC_000019.8:g.53035042G>A	NCBI36
NG_008605.1:g.23132G>A

Transcript Alleles

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