Canonical Allele Identifier: CA410604369
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985734301
MyVariant Identifiers: chr21:g.43169224C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169224C>G , CM000683.2:g.43169224C>G GRCh38
NG_009823.1:g.5194C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.125C>G MANE Select ENSP00000291554.2:p.Ser42Cys
ENST00000482775.1:n.138C>G
NM_000394.3:c.125C>G NP_000385.1:p.Ser42Cys
XR_001755073.1:n.647+1813G>C
NM_000394.4:c.125C>G MANE Select NP_000385.1:p.Ser42Cys
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