Canonical Allele Identifier: CA749619198
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1192127576
gnomAD v3: 21-43169326-C-A
gnomAD v4: 21-43169326-C-A
MyVariant Identifiers: chr21:g.43169326C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169326C>A , CM000683.2:g.43169326C>A GRCh38
NG_009823.1:g.5296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+38C>A MANE Select ENSP00000291554.2:n.189+38C>A
ENST00000482775.1:n.202+38C>A
NM_000394.3:c.189+38C>A NP_000385.1:n.189+38C>A
XR_001755073.1:n.647+1711G>T
NM_000394.4:c.189+38C>A MANE Select NP_000385.1:n.189+38C>A
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