Canonical Allele Identifier: CA10048854
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs771454244
ExAC: 21:45194075 A / T
gnomAD v2: 21-45194075-A-T
gnomAD v4: 21-43774194-A-T
MyVariant Identifiers: chr21:g.45194075A>T (hg19) chr21:g.43774194A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774194A>T , CM000683.2:g.43774194A>T GRCh38
NC_000021.8:g.45194075A>T , CM000683.1:g.45194075A>T GRCh37
NC_000021.7:g.44018503A>T NCBI36
NG_011545.1:g.7185T>A , LRG_485:g.7185T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.*8T>A MANE Select ENSP00000291568.6:n.*8T>A
ENST00000480147.3:n.2075T>A
ENST00000639959.1:c.172T>A
ENST00000640406.1:c.*380T>A ENSP00000492672.1:n.*380T>A
ENST00000675996.1:n.730T>A
ENST00000291568.5:c.*8T>A ENSP00000291568.5:n.*8T>A
ENST00000480147.1:n.669T>A
NM_000100.3:c.*8T>A , LRG_485t1:c.*8T>A NP_000091.1:n.*8T>A
NM_000100.4:c.*8T>A MANE Select NP_000091.1:n.*8T>A
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