Canonical Allele Identifier: CA10648928

Gene: CRX

Linked Data

• ClinVar Variation Id: 329770
• ClinVar RCV Id: RCV000295144 ; RCV000335037 ; RCV000389522
• dbSNP Id: rs149039830
• gnomAD v2: 19-48345963-G-A
• gnomAD v3: 19-47842706-G-A
• gnomAD v4: 19-47842706-G-A
• MyVariant Identifiers: chr19:g.48345963G>A (hg19) ; chr19:g.47842706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47842706G>A , CM000681.2:g.47842706G>A	GRCh38
NC_000019.9:g.48345963G>A , CM000681.1:g.48345963G>A	GRCh37
NC_000019.8:g.53037775G>A	NCBI36
NG_008605.1:g.25865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.*2739G>A MANE Select	ENSP00000221996.5:n.*2739G>A
ENST00000221996.11:c.*2739G>A	ENSP00000221996.5:n.*2739G>A
ENST00000539067.5:c.*619G>A	ENSP00000445565.1:n.*619G>A
ENST00000602001.1:n.240G>A
ENST00000613299.1:c.*3361G>A	ENSP00000478106.1:n.*3361G>A
NM_000554.4:c.*2739G>A	NP_000545.1:n.*2739G>A
NM_000554.5:c.*2739G>A	NP_000545.1:n.*2739G>A
NM_000554.6:c.*2739G>A MANE Select	NP_000545.1:n.*2739G>A