Canonical Allele Identifier: CA2391130783
Gene: CRYAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169359G= , CM000683.2:g.43169359G= GRCh38
NG_009823.1:g.5329G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+71G= MANE Select ENSP00000291554.2:n.189+71G=
ENST00000482775.1:n.202+71G=
NM_000394.3:c.189+71G= NP_000385.1:n.189+71G=
XR_001755073.1:n.647+1678C=
NM_000394.4:c.189+71G= MANE Select NP_000385.1:n.189+71G=
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