Canonical Allele Identifier: CA10048861
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs138149594
ExAC: 21:45194118 T / G
gnomAD v2: 21-45194118-T-G
gnomAD v3: 21-43774237-T-G
gnomAD v4: 21-43774237-T-G
MyVariant Identifiers: chr21:g.45194118T>G (hg19) chr21:g.43774237T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774237T>G , CM000683.2:g.43774237T>G GRCh38
NC_000021.8:g.45194118T>G , CM000683.1:g.45194118T>G GRCh37
NC_000021.7:g.44018546T>G NCBI36
NG_011545.1:g.7142A>C , LRG_485:g.7142A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.262A>C MANE Select ENSP00000291568.6:p.Asn88His
ENST00000480147.3:n.2032A>C
ENST00000639959.1:c.129A>C
ENST00000640406.1:c.*337A>C ENSP00000492672.1:n.*337A>C
ENST00000675996.1:n.687A>C
ENST00000291568.5:c.262A>C ENSP00000291568.5:p.Asn88His
ENST00000480147.1:n.626A>C
NM_000100.3:c.262A>C , LRG_485t1:c.262A>C NP_000091.1:p.Asn88His
NM_000100.4:c.262A>C MANE Select NP_000091.1:p.Asn88His
Search 100 bp 5'
Search 100 bp 3'