Canonical Allele Identifier: CA410604641
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1278625622
MyVariant Identifiers: chr21:g.43169284C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169284C>T , CM000683.2:g.43169284C>T GRCh38
NG_009823.1:g.5254C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.185C>T MANE Select ENSP00000291554.2:p.Ser62Phe
ENST00000482775.1:n.198C>T
NM_000394.3:c.185C>T NP_000385.1:p.Ser62Phe
XR_001755073.1:n.647+1753G>A
NM_000394.4:c.185C>T MANE Select NP_000385.1:p.Ser62Phe
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