Canonical Allele Identifier: CA749618839
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1278159319
gnomAD v4: 21-43169075-G-C
MyVariant Identifiers: chr21:g.43169075G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169075G>C , CM000683.2:g.43169075G>C GRCh38
NG_009823.1:g.5045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-25G>C MANE Select ENSP00000291554.2:n.-25G>C
NM_000394.3:c.-25G>C NP_000385.1:n.-25G>C
XR_001755073.1:n.647+1962C>G
NM_000394.4:c.-25G>C MANE Select NP_000385.1:n.-25G>C
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