Canonical Allele Identifier: CA410604604
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169269T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.170T>G MANE Select ENSP00000291554.2:p.Leu57Arg
ENST00000482775.1:n.183T>G
NM_000394.3:c.170T>G NP_000385.1:p.Leu57Arg
XR_001755073.1:n.647+1768A>C
NM_000394.4:c.170T>G MANE Select NP_000385.1:p.Leu57Arg