Canonical Allele Identifier: CA2391130729
Gene: CRYAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169232A= , CM000683.2:g.43169232A= GRCh38
NG_009823.1:g.5202A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.133A= MANE Select ENSP00000291554.2:p.Ser45=
ENST00000482775.1:n.146A=
NM_000394.3:c.133A= NP_000385.1:p.Ser45=
XR_001755073.1:n.647+1805T=
NM_000394.4:c.133A= MANE Select NP_000385.1:p.Ser45=
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