Canonical Allele Identifier: CA9544368

Gene: CRX

Linked Data

• ClinVar Variation Id: 329693
• ClinVar RCV Id: RCV000280624 ; RCV000401704 ; RCV000787830 ; RCV000878021 ; RCV001087610
• dbSNP Id: rs139340178
• ExAC: 19:48337728 C / G
• gnomAD v2: 19-48337728-C-G
• gnomAD v3: 19-47834471-C-G
• gnomAD v4: 19-47834471-C-G
• MyVariant Identifiers: chr19:g.48337728C>G (hg19) ; chr19:g.47834471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834471C>G , CM000681.2:g.47834471C>G	GRCh38
NC_000019.9:g.48337728C>G , CM000681.1:g.48337728C>G	GRCh37
NC_000019.8:g.53029540C>G	NCBI36
NG_008605.1:g.17630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.28C>G MANE Select	ENSP00000221996.5:p.His10Asp
ENST00000221996.11:c.28C>G	ENSP00000221996.5:p.His10Asp
ENST00000539067.5:c.28C>G	ENSP00000445565.1:p.His10Asp
ENST00000556527.1:n.78-1772C>G
ENST00000566686.5:c.28C>G	ENSP00000457808.2:p.His10Asp
ENST00000613299.1:c.28C>G	ENSP00000478106.1:p.His10Asp
NM_000554.4:c.28C>G	NP_000545.1:p.His10Asp
NM_000554.5:c.28C>G	NP_000545.1:p.His10Asp
NM_000554.6:c.28C>G MANE Select	NP_000545.1:p.His10Asp