Canonical Allele Identifier: CA2391347012
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43776254G= , CM000683.2:g.43776254G= GRCh38
NC_000021.8:g.45196135G= , CM000683.1:g.45196135G= GRCh37
NC_000021.7:g.44020563G= NCBI36
NG_011545.1:g.5125C= , LRG_485:g.5125C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.16C= MANE Select ENSP00000291568.6:p.Pro6=
ENST00000480147.3:n.15C=
ENST00000640406.1:c.16C= ENSP00000492672.1:p.Pro6=
ENST00000675996.1:n.77C=
ENST00000291568.5:c.16C= ENSP00000291568.5:p.Pro6=
ENST00000480147.1:n.53C=
NM_000100.3:c.16C= , LRG_485t1:c.16C= NP_000091.1:p.Pro6=
NM_000100.4:c.16C= MANE Select NP_000091.1:p.Pro6=