Canonical Allele Identifier: CA410407804
Gene: CSTB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774258T>G , CM000683.2:g.43774258T>G GRCh38
NC_000021.8:g.45194139T>G , CM000683.1:g.45194139T>G GRCh37
NC_000021.7:g.44018567T>G NCBI36
NG_011545.1:g.7121A>C , LRG_485:g.7121A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.241A>C MANE Select ENSP00000291568.6:p.Thr81Pro
ENST00000480147.3:n.2011A>C
ENST00000639959.1:c.108A>C
ENST00000640406.1:c.*316A>C ENSP00000492672.1:n.*316A>C
ENST00000675996.1:n.666A>C
ENST00000291568.5:c.241A>C ENSP00000291568.5:p.Thr81Pro
ENST00000480147.1:n.605A>C
NM_000100.3:c.241A>C , LRG_485t1:c.241A>C NP_000091.1:p.Thr81Pro
NM_000100.4:c.241A>C MANE Select NP_000091.1:p.Thr81Pro