Canonical Allele Identifier: CA227634

Gene: CRX

Linked Data

• ClinVar Variation Id: 99613
• ClinVar RCV Id: RCV000086010 ; RCV001132601 ; RCV001132602 ; RCV001132603 ; RCV001474134
• dbSNP Id: rs61748451
• ExAC: 19:48342873 G / A
• gnomAD v2: 19-48342873-G-A
• gnomAD v3: 19-47839616-G-A
• gnomAD v4: 19-47839616-G-A
• MyVariant Identifiers: chr19:g.48342873G>A (hg19) ; chr19:g.47839616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839616G>A , CM000681.2:g.47839616G>A	GRCh38
NC_000019.9:g.48342873G>A , CM000681.1:g.48342873G>A	GRCh37
NC_000019.8:g.53034685G>A	NCBI36
NG_008605.1:g.22775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.549G>A MANE Select	ENSP00000221996.5:p.Gly183=
ENST00000221996.11:c.549G>A	ENSP00000221996.5:p.Gly183=
ENST00000539067.5:c.549G>A	ENSP00000445565.1:p.Gly183=
ENST00000613299.1:c.*271G>A	ENSP00000478106.1:n.*271G>A
NM_000554.4:c.549G>A	NP_000545.1:p.Gly183=
NM_000554.5:c.549G>A	NP_000545.1:p.Gly183=
NM_000554.6:c.549G>A MANE Select	NP_000545.1:p.Gly183=