Canonical Allele Identifier: CA2577648597
Gene: CRYAA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169025G>T , CM000683.2:g.43169025G>T GRCh38
NG_009823.1:g.4995G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-75G>T MANE Select ENSP00000291554.2:n.-75G>T
NM_000394.3:c.-75G>T NP_000385.1:n.-75G>T
XR_001755073.1:n.647+2012C>A
NM_000394.4:c.-75G>T MANE Select NP_000385.1:n.-75G>T