Canonical Allele Identifier: CA749618801
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1161560227
gnomAD v4: 21-43169028-T-G
MyVariant Identifiers: chr21:g.43169028T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169028T>G , CM000683.2:g.43169028T>G GRCh38
NG_009823.1:g.4998T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-72T>G MANE Select ENSP00000291554.2:n.-72T>G
NM_000394.3:c.-72T>G NP_000385.1:n.-72T>G
XR_001755073.1:n.647+2009A>C
NM_000394.4:c.-72T>G MANE Select NP_000385.1:n.-72T>G
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