Canonical Allele Identifier: CA2654754601
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43774650-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774650C>A , CM000683.2:g.43774650C>A GRCh38
NC_000021.8:g.45194531C>A , CM000683.1:g.45194531C>A GRCh37
NC_000021.7:g.44018959C>A NCBI36
NG_011545.1:g.6729G>T , LRG_485:g.6729G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.168+8G>T MANE Select ENSP00000291568.6:n.168+8G>T
ENST00000480147.3:n.1619G>T
ENST00000639959.1:c.36-320G>T
ENST00000640406.1:c.176G>T ENSP00000492672.1:p.Cys59Phe
ENST00000675996.1:n.593+8G>T
ENST00000291568.5:c.168+8G>T ENSP00000291568.5:n.168+8G>T
ENST00000480147.1:n.213G>T
NM_000100.3:c.168+8G>T , LRG_485t1:c.168+8G>T NP_000091.1:n.168+8G>T
NM_000100.4:c.168+8G>T MANE Select NP_000091.1:n.168+8G>T
Search 100 bp 5'
Search 100 bp 3'