Canonical Allele Identifier: CA2654731439
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169073-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169073C>A , CM000683.2:g.43169073C>A GRCh38
NG_009823.1:g.5043C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-27C>A MANE Select ENSP00000291554.2:n.-27C>A
NM_000394.3:c.-27C>A NP_000385.1:n.-27C>A
XR_001755073.1:n.647+1964G>T
NM_000394.4:c.-27C>A MANE Select NP_000385.1:n.-27C>A
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