Canonical Allele Identifier: CA2391130833
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1781069192
gnomAD v4: 21-43169477-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169477T>C , CM000683.2:g.43169477T>C GRCh38
NG_009823.1:g.5447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+189T>C MANE Select ENSP00000291554.2:n.189+189T>C
ENST00000482775.1:n.203-56T>C
NM_000394.3:c.189+189T>C NP_000385.1:n.189+189T>C
XR_001755073.1:n.647+1560A>G
NM_000394.4:c.189+189T>C MANE Select NP_000385.1:n.189+189T>C
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