Canonical Allele Identifier: CA2391130881
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985745319
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169602C>G , CM000683.2:g.43169602C>G GRCh38
NG_009823.1:g.5572C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+314C>G MANE Select ENSP00000291554.2:n.189+314C>G
ENST00000398133.5:c.-123C>G ENSP00000381201.1:n.-123C>G
ENST00000482775.1:n.270+2C>G
NM_000394.3:c.189+314C>G NP_000385.1:n.189+314C>G
XR_001755073.1:n.647+1435G>C
NM_000394.4:c.189+314C>G MANE Select NP_000385.1:n.189+314C>G
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