Canonical Allele Identifier: CA749619367
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1171920537
gnomAD v3: 21-43169604-T-C
gnomAD v4: 21-43169604-T-C
MyVariant Identifiers: chr21:g.43169604T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169604T>C , CM000683.2:g.43169604T>C GRCh38
NG_009823.1:g.5574T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+316T>C MANE Select ENSP00000291554.2:n.189+316T>C
ENST00000398133.5:c.-121T>C ENSP00000381201.1:n.-121T>C
ENST00000482775.1:n.270+4T>C
NM_000394.3:c.189+316T>C NP_000385.1:n.189+316T>C
XR_001755073.1:n.647+1433A>G
NM_000394.4:c.189+316T>C MANE Select NP_000385.1:n.189+316T>C
Search 100 bp 5'
Search 100 bp 3'