Canonical Allele Identifier: CA2654731463
Gene: CRYAA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169141G>T , CM000683.2:g.43169141G>T GRCh38
NG_009823.1:g.5111G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.42G>T MANE Select ENSP00000291554.2:p.Leu14=
ENST00000482775.1:n.55G>T
NM_000394.3:c.42G>T NP_000385.1:p.Leu14=
XR_001755073.1:n.647+1896C>A
NM_000394.4:c.42G>T MANE Select NP_000385.1:p.Leu14=