Canonical Allele Identifier: CA321167534
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs866394406
MyVariant Identifiers: chr21:g.43169220T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169220T>C , CM000683.2:g.43169220T>C GRCh38
NG_009823.1:g.5190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.121T>C MANE Select ENSP00000291554.2:p.Ser41Pro
ENST00000482775.1:n.134T>C
NM_000394.3:c.121T>C NP_000385.1:p.Ser41Pro
XR_001755073.1:n.647+1817A>G
NM_000394.4:c.121T>C MANE Select NP_000385.1:p.Ser41Pro
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