Canonical Allele Identifier: CA508004000
Gene: CRX HGNC NCBI

Linked Data

gnomAD v4: 19-47836263-C-A
MyVariant Identifiers: chr19:g.48339520C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836263C>A , CM000681.2:g.47836263C>A GRCh38
NC_000019.9:g.48339520C>A , CM000681.1:g.48339520C>A GRCh37
NC_000019.8:g.53031332C>A NCBI36
NG_008605.1:g.19422C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.121C>A MANE Select ENSP00000221996.5:p.Arg41=
ENST00000221996.11:c.121C>A ENSP00000221996.5:p.Arg41=
ENST00000539067.5:c.121C>A ENSP00000445565.1:p.Arg41=
ENST00000556527.1:n.98C>A
ENST00000566686.5:c.121C>A ENSP00000457808.2:p.Arg41=
ENST00000613299.1:c.100+1720C>A ENSP00000478106.1:n.100+1720C>A
NM_000554.4:c.121C>A NP_000545.1:p.Arg41=
NM_000554.5:c.121C>A NP_000545.1:p.Arg41=
NM_000554.6:c.121C>A MANE Select NP_000545.1:p.Arg41=
Search 100 bp 5'
Search 100 bp 3'