Canonical Allele Identifier: CA321167917
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs752258800
gnomAD v4: 21-43169544-T-G
MyVariant Identifiers: chr21:g.43169544T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169544T>G , CM000683.2:g.43169544T>G GRCh38
NG_009823.1:g.5514T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+256T>G MANE Select ENSP00000291554.2:n.189+256T>G
ENST00000482775.1:n.214T>G
NM_000394.3:c.189+256T>G NP_000385.1:n.189+256T>G
XR_001755073.1:n.647+1493A>C
NM_000394.4:c.189+256T>G MANE Select NP_000385.1:n.189+256T>G
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