Canonical Allele Identifier: CA410407756
Gene: CSTB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774247G>C , CM000683.2:g.43774247G>C GRCh38
NC_000021.8:g.45194128G>C , CM000683.1:g.45194128G>C GRCh37
NC_000021.7:g.44018556G>C NCBI36
NG_011545.1:g.7132C>G , LRG_485:g.7132C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.252C>G MANE Select ENSP00000291568.6:p.Asn84Lys
ENST00000480147.3:n.2022C>G
ENST00000639959.1:c.119C>G
ENST00000640406.1:c.*327C>G ENSP00000492672.1:n.*327C>G
ENST00000675996.1:n.677C>G
ENST00000291568.5:c.252C>G ENSP00000291568.5:p.Asn84Lys
ENST00000480147.1:n.616C>G
NM_000100.3:c.252C>G , LRG_485t1:c.252C>G NP_000091.1:p.Asn84Lys
NM_000100.4:c.252C>G MANE Select NP_000091.1:p.Asn84Lys