Canonical Allele Identifier: CA2654731480
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v4: 21-43169279-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169279C>A , CM000683.2:g.43169279C>A GRCh38
NG_009823.1:g.5249C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.180C>A MANE Select ENSP00000291554.2:p.Gly60=
ENST00000482775.1:n.193C>A
NM_000394.3:c.180C>A NP_000385.1:p.Gly60=
XR_001755073.1:n.647+1758G>T
NM_000394.4:c.180C>A MANE Select NP_000385.1:p.Gly60=
Search 100 bp 5'
Search 100 bp 3'