Canonical Allele Identifier: CA321167220
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs867770612
gnomAD v4: 21-43169010-G-T
MyVariant Identifiers: chr21:g.43169010G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169010G>T , CM000683.2:g.43169010G>T GRCh38
NG_009823.1:g.4980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-90G>T MANE Select ENSP00000291554.2:n.-90G>T
NM_000394.3:c.-90G>T NP_000385.1:n.-90G>T
XR_001755073.1:n.647+2027C>A
NM_000394.4:c.-90G>T MANE Select NP_000385.1:n.-90G>T
Search 100 bp 5'
Search 100 bp 3'