Canonical Allele Identifier: CA749619177
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs377222721
gnomAD v4: 21-43169303-G-T
MyVariant Identifiers: chr21:g.43169303G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169303G>T , CM000683.2:g.43169303G>T GRCh38
NG_009823.1:g.5273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+15G>T MANE Select ENSP00000291554.2:n.189+15G>T
ENST00000482775.1:n.202+15G>T
NM_000394.3:c.189+15G>T NP_000385.1:n.189+15G>T
XR_001755073.1:n.647+1734C>A
NM_000394.4:c.189+15G>T MANE Select NP_000385.1:n.189+15G>T
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