Canonical Allele Identifier: CA227639

Gene: CRX

Linked Data

• ClinVar Variation Id: 99617
• ClinVar RCV Id: RCV000086014 ; RCV000277021 ; RCV000311321 ; RCV000368298 ; RCV001080501 ; RCV003905083
• dbSNP Id: rs61748455
• ExAC: 19:48342921 C / T
• gnomAD v2: 19-48342921-C-T
• gnomAD v3: 19-47839664-C-T
• gnomAD v4: 19-47839664-C-T
• MyVariant Identifiers: chr19:g.48342921C>T (hg19) ; chr19:g.47839664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839664C>T , CM000681.2:g.47839664C>T	GRCh38
NC_000019.9:g.48342921C>T , CM000681.1:g.48342921C>T	GRCh37
NC_000019.8:g.53034733C>T	NCBI36
NG_008605.1:g.22823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221996.12:c.597C>T MANE Select	ENSP00000221996.5:p.Ser199=
ENST00000221996.11:c.597C>T	ENSP00000221996.5:p.Ser199=
ENST00000539067.5:c.597C>T	ENSP00000445565.1:p.Ser199=
ENST00000613299.1:c.*319C>T	ENSP00000478106.1:n.*319C>T
NM_000554.4:c.597C>T	NP_000545.1:p.Ser199=
NM_000554.5:c.597C>T	NP_000545.1:p.Ser199=
NM_000554.6:c.597C>T MANE Select	NP_000545.1:p.Ser199=