Canonical Allele Identifier: CA410604572
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169263C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169263C>A , CM000683.2:g.43169263C>A GRCh38
NG_009823.1:g.5233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.164C>A MANE Select ENSP00000291554.2:p.Thr55Asn
ENST00000482775.1:n.177C>A
NM_000394.3:c.164C>A NP_000385.1:p.Thr55Asn
XR_001755073.1:n.647+1774G>T
NM_000394.4:c.164C>A MANE Select NP_000385.1:p.Thr55Asn
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