Canonical Allele Identifier: CA2654731410
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169047-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169047A>G , CM000683.2:g.43169047A>G GRCh38
NG_009823.1:g.5017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-53A>G MANE Select ENSP00000291554.2:n.-53A>G
NM_000394.3:c.-53A>G NP_000385.1:n.-53A>G
XR_001755073.1:n.647+1990T>C
NM_000394.4:c.-53A>G MANE Select NP_000385.1:n.-53A>G
Search 100 bp 5'
Search 100 bp 3'