Canonical Allele Identifier: CA2391130747
Gene: CRYAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169274T= , CM000683.2:g.43169274T= GRCh38
NG_009823.1:g.5244T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.175T= MANE Select ENSP00000291554.2:p.Ser59=
ENST00000482775.1:n.188T=
NM_000394.3:c.175T= NP_000385.1:p.Ser59=
XR_001755073.1:n.647+1763A=
NM_000394.4:c.175T= MANE Select NP_000385.1:p.Ser59=
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