Canonical Allele Identifier: CA410604501
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169249G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169249G>C , CM000683.2:g.43169249G>C GRCh38
NG_009823.1:g.5219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.150G>C MANE Select ENSP00000291554.2:p.Gln50His
ENST00000482775.1:n.163G>C
NM_000394.3:c.150G>C NP_000385.1:p.Gln50His
XR_001755073.1:n.647+1788C>G
NM_000394.4:c.150G>C MANE Select NP_000385.1:p.Gln50His
Search 100 bp 5'
Search 100 bp 3'