Canonical Allele Identifier: CA9544404
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 956064
ClinVar RCV Id: RCV001228802
dbSNP Id: rs771736389
ExAC: 19:48339527 G / A
gnomAD v2: 19-48339527-G-A
gnomAD v3: 19-47836270-G-A
gnomAD v4: 19-47836270-G-A
MyVariant Identifiers: chr19:g.48339527G>A (hg19) chr19:g.47836270G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836270G>A , CM000681.2:g.47836270G>A GRCh38
NC_000019.9:g.48339527G>A , CM000681.1:g.48339527G>A GRCh37
NC_000019.8:g.53031339G>A NCBI36
NG_008605.1:g.19429G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.128G>A MANE Select ENSP00000221996.5:p.Arg43His
ENST00000221996.11:c.128G>A ENSP00000221996.5:p.Arg43His
ENST00000539067.5:c.128G>A ENSP00000445565.1:p.Arg43His
ENST00000556527.1:n.105G>A
ENST00000566686.5:c.128G>A ENSP00000457808.2:p.Arg43His
ENST00000613299.1:c.100+1727G>A ENSP00000478106.1:n.100+1727G>A
NM_000554.4:c.128G>A NP_000545.1:p.Arg43His
NM_000554.5:c.128G>A NP_000545.1:p.Arg43His
NM_000554.6:c.128G>A MANE Select NP_000545.1:p.Arg43His
Search 100 bp 5'
Search 100 bp 3'