Canonical Allele Identifier: CA9544383
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 759454
ClinVar RCV Id: RCV000937282
dbSNP Id: rs375411321
ExAC: 19:48337808 C / T
gnomAD v2: 19-48337808-C-T
gnomAD v3: 19-47834551-C-T
gnomAD v4: 19-47834551-C-T
MyVariant Identifiers: chr19:g.48337808C>T (hg19) chr19:g.47834551C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834551C>T , CM000681.2:g.47834551C>T GRCh38
NC_000019.9:g.48337808C>T , CM000681.1:g.48337808C>T GRCh37
NC_000019.8:g.53029620C>T NCBI36
NG_008605.1:g.17710C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.100+8C>T MANE Select ENSP00000221996.5:n.100+8C>T
ENST00000221996.11:c.100+8C>T ENSP00000221996.5:n.100+8C>T
ENST00000539067.5:c.100+8C>T ENSP00000445565.1:n.100+8C>T
ENST00000556527.1:n.78-1692C>T
ENST00000566686.5:c.100+8C>T ENSP00000457808.2:n.100+8C>T
ENST00000613299.1:c.100+8C>T ENSP00000478106.1:n.100+8C>T
NM_000554.4:c.100+8C>T NP_000545.1:n.100+8C>T
NM_000554.5:c.100+8C>T NP_000545.1:n.100+8C>T
NM_000554.6:c.100+8C>T MANE Select NP_000545.1:n.100+8C>T
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Search 100 bp 3'