Canonical Allele Identifier: CA410604458
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169241T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169241T>A , CM000683.2:g.43169241T>A GRCh38
NG_009823.1:g.5211T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.142T>A MANE Select ENSP00000291554.2:p.Tyr48Asn
ENST00000482775.1:n.155T>A
NM_000394.3:c.142T>A NP_000385.1:p.Tyr48Asn
XR_001755073.1:n.647+1796A>T
NM_000394.4:c.142T>A MANE Select NP_000385.1:p.Tyr48Asn
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