Canonical Allele Identifier: CA410604338
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169217C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169217C>G , CM000683.2:g.43169217C>G GRCh38
NG_009823.1:g.5187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.118C>G MANE Select ENSP00000291554.2:p.Leu40Val
ENST00000482775.1:n.131C>G
NM_000394.3:c.118C>G NP_000385.1:p.Leu40Val
XR_001755073.1:n.647+1820G>C
NM_000394.4:c.118C>G MANE Select NP_000385.1:p.Leu40Val
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