Canonical Allele Identifier: CA410604629
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169278G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169278G>T , CM000683.2:g.43169278G>T GRCh38
NG_009823.1:g.5248G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.179G>T MANE Select ENSP00000291554.2:p.Gly60Val
ENST00000482775.1:n.192G>T
NM_000394.3:c.179G>T NP_000385.1:p.Gly60Val
XR_001755073.1:n.647+1759C>A
NM_000394.4:c.179G>T MANE Select NP_000385.1:p.Gly60Val
Search 100 bp 5'
Search 100 bp 3'