Canonical Allele Identifier: CA2391130884
Gene: CRYAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169607G= , CM000683.2:g.43169607G= GRCh38
NG_009823.1:g.5577G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+319G= MANE Select ENSP00000291554.2:n.189+319G=
ENST00000398133.5:c.-118G= ENSP00000381201.1:n.-118G=
ENST00000482775.1:n.270+7G=
NM_000394.3:c.189+319G= NP_000385.1:n.189+319G=
XR_001755073.1:n.647+1430C=
NM_000394.4:c.189+319G= MANE Select NP_000385.1:n.189+319G=