Canonical Allele Identifier: CA321167608
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2210771
ClinVar RCV Id: RCV004079343
dbSNP Id: rs781119593
gnomAD v3: 21-43169265-G-A
gnomAD v4: 21-43169265-G-A
MyVariant Identifiers: chr21:g.43169265G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169265G>A , CM000683.2:g.43169265G>A GRCh38
NG_009823.1:g.5235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.166G>A MANE Select ENSP00000291554.2:p.Val56Met
ENST00000482775.1:n.179G>A
NM_000394.3:c.166G>A NP_000385.1:p.Val56Met
XR_001755073.1:n.647+1772C>T
NM_000394.4:c.166G>A MANE Select NP_000385.1:p.Val56Met
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