Canonical Allele Identifier: CA10048917
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs781145714
ExAC: 21:45194519 T / C
gnomAD v2: 21-45194519-T-C
gnomAD v4: 21-43774638-T-C
MyVariant Identifiers: chr21:g.45194519T>C (hg19) chr21:g.43774638T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774638T>C , CM000683.2:g.43774638T>C GRCh38
NC_000021.8:g.45194519T>C , CM000683.1:g.45194519T>C GRCh37
NC_000021.7:g.44018947T>C NCBI36
NG_011545.1:g.6741A>G , LRG_485:g.6741A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.168+20A>G MANE Select ENSP00000291568.6:n.168+20A>G
ENST00000480147.3:n.1631A>G
ENST00000639959.1:c.36-308A>G
ENST00000640406.1:c.188A>G ENSP00000492672.1:p.Glu63Gly
ENST00000675996.1:n.593+20A>G
ENST00000291568.5:c.168+20A>G ENSP00000291568.5:n.168+20A>G
ENST00000480147.1:n.225A>G
NM_000100.3:c.168+20A>G , LRG_485t1:c.168+20A>G NP_000091.1:n.168+20A>G
NM_000100.4:c.168+20A>G MANE Select NP_000091.1:n.168+20A>G
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