Canonical Allele Identifier: CA214970
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 16959
ClinVar RCV Id: RCV000018472
dbSNP Id: rs74315441
gnomAD v3: 21-43169244-C-T
gnomAD v4: 21-43169244-C-T
COSMIC: COSM5858712
MyVariant Identifiers: chr21:g.43169244C>T (hg38)
PubMed: PMID:14512969 PMID:26542570
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169244C>T , CM000683.2:g.43169244C>T GRCh38
NG_009823.1:g.5214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.145C>T MANE Select ENSP00000291554.2:p.Arg49Cys
ENST00000482775.1:n.158C>T
NM_000394.3:c.145C>T NP_000385.1:p.Arg49Cys
XR_001755073.1:n.647+1793G>A
NM_000394.4:c.145C>T MANE Select NP_000385.1:p.Arg49Cys
Search 100 bp 5'
Search 100 bp 3'