Canonical Allele Identifier: CA749618807
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1460555329
gnomAD v4: 21-43169049-G-A
MyVariant Identifiers: chr21:g.43169049G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169049G>A , CM000683.2:g.43169049G>A GRCh38
NG_009823.1:g.5019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-51G>A MANE Select ENSP00000291554.2:n.-51G>A
NM_000394.3:c.-51G>A NP_000385.1:n.-51G>A
XR_001755073.1:n.647+1988C>T
NM_000394.4:c.-51G>A MANE Select NP_000385.1:n.-51G>A
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