Canonical Allele Identifier: CA9544386

Gene: CRX

Linked Data

• dbSNP Id: rs773865588
• ExAC: 19:48337821 T / C
• gnomAD v2: 19-48337821-T-C
• gnomAD v4: 19-47834564-T-C
• MyVariant Identifiers: chr19:g.48337821T>C (hg19) ; chr19:g.47834564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834564T>C , CM000681.2:g.47834564T>C	GRCh38
NC_000019.9:g.48337821T>C , CM000681.1:g.48337821T>C	GRCh37
NC_000019.8:g.53029633T>C	NCBI36
NG_008605.1:g.17723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+21T>C MANE Select	ENSP00000221996.5:n.100+21T>C
ENST00000221996.11:c.100+21T>C	ENSP00000221996.5:n.100+21T>C
ENST00000539067.5:c.100+21T>C	ENSP00000445565.1:n.100+21T>C
ENST00000556527.1:n.78-1679T>C
ENST00000566686.5:c.100+21T>C	ENSP00000457808.2:n.100+21T>C
ENST00000613299.1:c.100+21T>C	ENSP00000478106.1:n.100+21T>C
NM_000554.4:c.100+21T>C	NP_000545.1:n.100+21T>C
NM_000554.5:c.100+21T>C	NP_000545.1:n.100+21T>C
NM_000554.6:c.100+21T>C MANE Select	NP_000545.1:n.100+21T>C