Canonical Allele Identifier: CA270027

Gene: CRX

Linked Data

• ClinVar Variation Id: 143085
• ClinVar RCV Id: RCV000132604 ; RCV003888547
• dbSNP Id: rs527236062
• ExAC: 19:48339592 G / C
• gnomAD v2: 19-48339592-G-C
• gnomAD v3: 19-47836335-G-C
• gnomAD v4: 19-47836335-G-C
• MyVariant Identifiers: chr19:g.48339592G>C (hg19) ; chr19:g.47836335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47836335G>C , CM000681.2:g.47836335G>C	GRCh38
NC_000019.9:g.48339592G>C , CM000681.1:g.48339592G>C	GRCh37
NC_000019.8:g.53031404G>C	NCBI36
NG_008605.1:g.19494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.193G>C MANE Select	ENSP00000221996.5:p.Asp65His
ENST00000221996.11:c.193G>C	ENSP00000221996.5:p.Asp65His
ENST00000539067.5:c.193G>C	ENSP00000445565.1:p.Asp65His
ENST00000613299.1:c.100+1792G>C	ENSP00000478106.1:n.100+1792G>C
NM_000554.4:c.193G>C	NP_000545.1:p.Asp65His
NM_000554.5:c.193G>C	NP_000545.1:p.Asp65His
NM_000554.6:c.193G>C MANE Select	NP_000545.1:p.Asp65His