Canonical Allele Identifier: CA914334605

Gene: CRX

Linked Data

• ClinVar Variation Id: 3064069
• ClinVar RCV Id: RCV003988657
• dbSNP Id: rs1568624185
• gnomAD v2: 19-48337805-G-A
• gnomAD v3: 19-47834548-G-A
• gnomAD v4: 19-47834548-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834548G>A , CM000681.2:g.47834548G>A	GRCh38
NC_000019.9:g.48337805G>A , CM000681.1:g.48337805G>A	GRCh37
NC_000019.8:g.53029617G>A	NCBI36
NG_008605.1:g.17707G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+5G>A MANE Select	ENSP00000221996.5:n.100+5G>A
ENST00000221996.11:c.100+5G>A	ENSP00000221996.5:n.100+5G>A
ENST00000539067.5:c.100+5G>A	ENSP00000445565.1:n.100+5G>A
ENST00000556527.1:n.78-1695G>A
ENST00000566686.5:c.100+5G>A	ENSP00000457808.2:n.100+5G>A
ENST00000613299.1:c.100+5G>A	ENSP00000478106.1:n.100+5G>A
NM_000554.4:c.100+5G>A	NP_000545.1:n.100+5G>A
NM_000554.5:c.100+5G>A	NP_000545.1:n.100+5G>A
NM_000554.6:c.100+5G>A MANE Select	NP_000545.1:n.100+5G>A