Canonical Allele Identifier: CA1022638122
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985738913
gnomAD v3: 21-43169339-G-A
gnomAD v4: 21-43169339-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169339G>A , CM000683.2:g.43169339G>A GRCh38
NG_009823.1:g.5309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+51G>A MANE Select ENSP00000291554.2:n.189+51G>A
ENST00000482775.1:n.202+51G>A
NM_000394.3:c.189+51G>A NP_000385.1:n.189+51G>A
XR_001755073.1:n.647+1698C>T
NM_000394.4:c.189+51G>A MANE Select NP_000385.1:n.189+51G>A
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