Canonical Allele Identifier: CA145174
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 68459
ClinVar RCV Id: RCV000059328 RCV000810953 RCV001530045 RCV001775004 RCV001814044
dbSNP Id: rs397515624
gnomAD v4: 21-43169133-C-T
MyVariant Identifiers: chr21:g.43169133C>T (hg38)
PubMed: PMID:17724170 PMID:23508780
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169133C>T , CM000683.2:g.43169133C>T GRCh38
NG_009823.1:g.5103C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.34C>T MANE Select ENSP00000291554.2:p.Arg12Cys
ENST00000482775.1:n.47C>T
NM_000394.3:c.34C>T NP_000385.1:p.Arg12Cys
XR_001755073.1:n.647+1904G>A
NM_000394.4:c.34C>T MANE Select NP_000385.1:p.Arg12Cys
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