Canonical Allele Identifier: CA2391130752
Gene: CRYAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169286G= , CM000683.2:g.43169286G= GRCh38
NG_009823.1:g.5256G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.187G= MANE Select ENSP00000291554.2:p.Glu63=
ENST00000482775.1:n.200G=
NM_000394.3:c.187G= NP_000385.1:p.Glu63=
XR_001755073.1:n.647+1751C=
NM_000394.4:c.187G= MANE Select NP_000385.1:p.Glu63=
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