Canonical Allele Identifier: CA321167712
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1534897
ClinVar RCV Id: RCV002072535
dbSNP Id: rs191516889
gnomAD v3: 21-43169302-C-T
gnomAD v4: 21-43169302-C-T
MyVariant Identifiers: chr21:g.43169302C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169302C>T , CM000683.2:g.43169302C>T GRCh38
NG_009823.1:g.5272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+14C>T MANE Select ENSP00000291554.2:n.189+14C>T
ENST00000482775.1:n.202+14C>T
NM_000394.3:c.189+14C>T NP_000385.1:n.189+14C>T
XR_001755073.1:n.647+1735G>A
NM_000394.4:c.189+14C>T MANE Select NP_000385.1:n.189+14C>T
Search 100 bp 5'
Search 100 bp 3'