Canonical Allele Identifier: CA202718
Gene: CRX HGNC NCBI
COSMIC:
COSM4984914 (not active)
MyVariant.info:
GRCh38 chr19:g.47839539G>A
GRCh37 chr19:g.48342796G>A
Revel Score:
ENST00000221996 (MANE Select) 0.271
ENST00000539067 0.271
gnomAD v2:
19:48342796 G / A
gnomAD v3:
19:47839539 G / A
gnomAD v4:
chr19-47839539-G-A
Joint Max Group AF 0.08378644 (AFR)
Genomes Max Group AF 0.0794429 (AFR)
Exomes Max Group AF 0.08755999 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839539G>A , CM000681.2:g.47839539G>A GRCh38
NC_000019.9:g.48342796G>A , CM000681.1:g.48342796G>A GRCh37
NC_000019.8:g.53034608G>A NCBI36
NG_008605.1:g.22698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221996.12:c.472G>A MANE Select ENSP00000221996.5:p.Ala158Thr
ENST00000221996.11:c.472G>A ENSP00000221996.5:p.Ala158Thr
ENST00000539067.5:c.472G>A ENSP00000445565.1:p.Ala158Thr
ENST00000613299.1:c.*194G>A ENSP00000478106.1:n.*194G>A
NM_000554.4:c.472G>A NP_000545.1:p.Ala158Thr
NM_000554.5:c.472G>A NP_000545.1:p.Ala158Thr
NM_000554.6:c.472G>A MANE Select NP_000545.1:p.Ala158Thr
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