Canonical Allele Identifier: CA410604602
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169269T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169269T>C , CM000683.2:g.43169269T>C GRCh38
NG_009823.1:g.5239T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.170T>C MANE Select ENSP00000291554.2:p.Leu57Pro
ENST00000482775.1:n.183T>C
NM_000394.3:c.170T>C NP_000385.1:p.Leu57Pro
XR_001755073.1:n.647+1768A>G
NM_000394.4:c.170T>C MANE Select NP_000385.1:p.Leu57Pro
Search 100 bp 5'
Search 100 bp 3'