Canonical Allele Identifier: CA406629839
Gene: CRX HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.47836381A>G
GRCh37 chr19:g.48339638A>G
Revel Score:
ENST00000221996 (MANE Select) 0.911
ENST00000539067 0.911
ClinVar Allele:
856912
ClinVar RCV:
RCV001073303
ClinVar Variation:
865803
dbSNP:
104894671
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836381A>G , CM000681.2:g.47836381A>G GRCh38
NC_000019.9:g.48339638A>G , CM000681.1:g.48339638A>G GRCh37
NC_000019.8:g.53031450A>G NCBI36
NG_008605.1:g.19540A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221996.12:c.239A>G MANE Select ENSP00000221996.5:p.Glu80Gly
ENST00000221996.11:c.239A>G ENSP00000221996.5:p.Glu80Gly
ENST00000539067.5:c.239A>G ENSP00000445565.1:p.Glu80Gly
ENST00000613299.1:c.100+1838A>G ENSP00000478106.1:n.100+1838A>G
NM_000554.4:c.239A>G NP_000545.1:p.Glu80Gly
NM_000554.5:c.239A>G NP_000545.1:p.Glu80Gly
NM_000554.6:c.239A>G MANE Select NP_000545.1:p.Glu80Gly
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