Canonical Allele Identifier: CA2391345973
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774231C= , CM000683.2:g.43774231C= GRCh38
NC_000021.8:g.45194112C= , CM000683.1:g.45194112C= GRCh37
NC_000021.7:g.44018540C= NCBI36
NG_011545.1:g.7148G= , LRG_485:g.7148G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.268G= MANE Select ENSP00000291568.6:p.Ala90=
ENST00000480147.3:n.2038G=
ENST00000639959.1:c.135G=
ENST00000640406.1:c.*343G= ENSP00000492672.1:n.*343G=
ENST00000675996.1:n.693G=
ENST00000291568.5:c.268G= ENSP00000291568.5:p.Ala90=
ENST00000480147.1:n.632G=
NM_000100.3:c.268G= , LRG_485t1:c.268G= NP_000091.1:p.Ala90=
NM_000100.4:c.268G= MANE Select NP_000091.1:p.Ala90=