Canonical Allele Identifier: CA10048920
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs775447833
ExAC: 21:45194534 T / A
gnomAD v2: 21-45194534-T-A
gnomAD v4: 21-43774653-T-A
MyVariant Identifiers: chr21:g.45194534T>A (hg19) chr21:g.43774653T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774653T>A , CM000683.2:g.43774653T>A GRCh38
NC_000021.8:g.45194534T>A , CM000683.1:g.45194534T>A GRCh37
NC_000021.7:g.44018962T>A NCBI36
NG_011545.1:g.6726A>T , LRG_485:g.6726A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.168+5A>T MANE Select ENSP00000291568.6:n.168+5A>T
ENST00000480147.3:n.1616A>T
ENST00000639959.1:c.36-323A>T
ENST00000640406.1:c.173A>T ENSP00000492672.1:p.Glu58Val
ENST00000675996.1:n.593+5A>T
ENST00000291568.5:c.168+5A>T ENSP00000291568.5:n.168+5A>T
ENST00000480147.1:n.210A>T
NM_000100.3:c.168+5A>T , LRG_485t1:c.168+5A>T NP_000091.1:n.168+5A>T
NM_000100.4:c.168+5A>T MANE Select NP_000091.1:n.168+5A>T
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Search 100 bp 3'