Canonical Allele Identifier: CA410604536
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985735707
MyVariant Identifiers: chr21:g.43169256T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169256T>C , CM000683.2:g.43169256T>C GRCh38
NG_009823.1:g.5226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.157T>C MANE Select ENSP00000291554.2:p.Phe53Leu
ENST00000482775.1:n.170T>C
NM_000394.3:c.157T>C NP_000385.1:p.Phe53Leu
XR_001755073.1:n.647+1781A>G
NM_000394.4:c.157T>C MANE Select NP_000385.1:p.Phe53Leu