Canonical Allele Identifier: CA174095
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 161470
ClinVar RCV Id: RCV000149004
dbSNP Id: rs193920917

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836249C>A , CM000681.2:g.47836249C>A GRCh38
NC_000019.9:g.48339506C>A , CM000681.1:g.48339506C>A GRCh37
NC_000019.8:g.53031318C>A NCBI36
NG_008605.1:g.19408C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221996.12:c.107C>A MANE Select ENSP00000221996.5:p.Pro36His
ENST00000221996.11:c.107C>A ENSP00000221996.5:p.Pro36His
ENST00000539067.5:c.107C>A ENSP00000445565.1:p.Pro36His
ENST00000556527.1:n.84C>A
ENST00000566686.5:c.107C>A ENSP00000457808.2:p.Pro36His
ENST00000613299.1:c.100+1706C>A ENSP00000478106.1:n.100+1706C>A
NM_000554.4:c.107C>A NP_000545.1:p.Pro36His
NM_000554.5:c.107C>A NP_000545.1:p.Pro36His
NM_000554.6:c.107C>A MANE Select NP_000545.1:p.Pro36His