Canonical Allele Identifier: CA410603930
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169106-G-C
MyVariant Identifiers: chr21:g.43169106G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169106G>C , CM000683.2:g.43169106G>C GRCh38
NG_009823.1:g.5076G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.7G>C MANE Select ENSP00000291554.2:p.Val3Leu
ENST00000482775.1:n.20G>C
NM_000394.3:c.7G>C NP_000385.1:p.Val3Leu
XR_001755073.1:n.647+1931C>G
NM_000394.4:c.7G>C MANE Select NP_000385.1:p.Val3Leu
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