Canonical Allele Identifier: CA2654731394
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169030-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169030C>G , CM000683.2:g.43169030C>G GRCh38
NG_009823.1:g.5000C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-70C>G MANE Select ENSP00000291554.2:n.-70C>G
NM_000394.3:c.-70C>G NP_000385.1:n.-70C>G
XR_001755073.1:n.647+2007G>C
NM_000394.4:c.-70C>G MANE Select NP_000385.1:n.-70C>G
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