Canonical Allele Identifier: CA410604645
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169287A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169287A>C , CM000683.2:g.43169287A>C GRCh38
NG_009823.1:g.5257A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.188A>C MANE Select ENSP00000291554.2:p.Glu63Ala
ENST00000482775.1:n.201A>C
NM_000394.3:c.188A>C NP_000385.1:p.Glu63Ala
XR_001755073.1:n.647+1750T>G
NM_000394.4:c.188A>C MANE Select NP_000385.1:p.Glu63Ala
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