Canonical Allele Identifier: CA9544384
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 1138418
ClinVar RCV Id: RCV001474780
dbSNP Id: rs770361425
ExAC: 19:48337813 G / A
gnomAD v2: 19-48337813-G-A
gnomAD v3: 19-47834556-G-A
gnomAD v4: 19-47834556-G-A
MyVariant Identifiers: chr19:g.48337813G>A (hg19) chr19:g.47834556G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834556G>A , CM000681.2:g.47834556G>A GRCh38
NC_000019.9:g.48337813G>A , CM000681.1:g.48337813G>A GRCh37
NC_000019.8:g.53029625G>A NCBI36
NG_008605.1:g.17715G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.100+13G>A MANE Select ENSP00000221996.5:n.100+13G>A
ENST00000221996.11:c.100+13G>A ENSP00000221996.5:n.100+13G>A
ENST00000539067.5:c.100+13G>A ENSP00000445565.1:n.100+13G>A
ENST00000556527.1:n.78-1687G>A
ENST00000566686.5:c.100+13G>A ENSP00000457808.2:n.100+13G>A
ENST00000613299.1:c.100+13G>A ENSP00000478106.1:n.100+13G>A
NM_000554.4:c.100+13G>A NP_000545.1:n.100+13G>A
NM_000554.5:c.100+13G>A NP_000545.1:n.100+13G>A
NM_000554.6:c.100+13G>A MANE Select NP_000545.1:n.100+13G>A
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