Canonical Allele Identifier: CA410407589
Gene: CSTB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774205G>T , CM000683.2:g.43774205G>T GRCh38
NC_000021.8:g.45194086G>T , CM000683.1:g.45194086G>T GRCh37
NC_000021.7:g.44018514G>T NCBI36
NG_011545.1:g.7174C>A , LRG_485:g.7174C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.294C>A MANE Select ENSP00000291568.6:p.Phe98Leu
ENST00000480147.3:n.2064C>A
ENST00000639959.1:c.161C>A
ENST00000640406.1:c.*369C>A ENSP00000492672.1:n.*369C>A
ENST00000675996.1:n.719C>A
ENST00000291568.5:c.294C>A ENSP00000291568.5:p.Phe98Leu
ENST00000480147.1:n.658C>A
NM_000100.3:c.294C>A , LRG_485t1:c.294C>A NP_000091.1:p.Phe98Leu
NM_000100.4:c.294C>A MANE Select NP_000091.1:p.Phe98Leu