Canonical Allele Identifier: CA321167769
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs747472068
MyVariant Identifiers: chr21:g.43169314C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169314C>G , CM000683.2:g.43169314C>G GRCh38
NG_009823.1:g.5284C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+26C>G MANE Select ENSP00000291554.2:n.189+26C>G
ENST00000482775.1:n.202+26C>G
NM_000394.3:c.189+26C>G NP_000385.1:n.189+26C>G
XR_001755073.1:n.647+1723G>C
NM_000394.4:c.189+26C>G MANE Select NP_000385.1:n.189+26C>G
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