Canonical Allele Identifier: CA10587360
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 256010
ClinVar RCV Id: RCV000241735 RCV000264346 RCV000833046
dbSNP Id: rs872331
gnomAD v3: 21-43169105-C-T
gnomAD v4: 21-43169105-C-T
MyVariant Identifiers: chr21:g.43169105C>T (hg38)
PubMed: PMID:2671581 PMID:20606865
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169105C>T , CM000683.2:g.43169105C>T GRCh38
NG_009823.1:g.5075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.6C>T MANE Select ENSP00000291554.2:p.Asp2=
ENST00000482775.1:n.19C>T
NM_000394.3:c.6C>T NP_000385.1:p.Asp2=
XR_001755073.1:n.647+1932G>A
NM_000394.4:c.6C>T MANE Select NP_000385.1:p.Asp2=
Search 100 bp 5'
Search 100 bp 3'