Canonical Allele Identifier: CA2586123727
Gene: CRX HGNC NCBI

Linked Data

gnomAD v4: 19-47834563-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834563T>G , CM000681.2:g.47834563T>G GRCh38
NC_000019.9:g.48337820T>G , CM000681.1:g.48337820T>G GRCh37
NC_000019.8:g.53029632T>G NCBI36
NG_008605.1:g.17722T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.100+20T>G MANE Select ENSP00000221996.5:n.100+20T>G
ENST00000221996.11:c.100+20T>G ENSP00000221996.5:n.100+20T>G
ENST00000539067.5:c.100+20T>G ENSP00000445565.1:n.100+20T>G
ENST00000556527.1:n.78-1680T>G
ENST00000566686.5:c.100+20T>G ENSP00000457808.2:n.100+20T>G
ENST00000613299.1:c.100+20T>G ENSP00000478106.1:n.100+20T>G
NM_000554.4:c.100+20T>G NP_000545.1:n.100+20T>G
NM_000554.5:c.100+20T>G NP_000545.1:n.100+20T>G
NM_000554.6:c.100+20T>G MANE Select NP_000545.1:n.100+20T>G
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