Canonical Allele Identifier: CA2391130848
Gene: CRYAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169511C= , CM000683.2:g.43169511C= GRCh38
NG_009823.1:g.5481C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+223C= MANE Select ENSP00000291554.2:n.189+223C=
ENST00000482775.1:n.203-22C=
NM_000394.3:c.189+223C= NP_000385.1:n.189+223C=
XR_001755073.1:n.647+1526G=
NM_000394.4:c.189+223C= MANE Select NP_000385.1:n.189+223C=
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