Canonical Allele Identifier: CA10048850
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs748541590
ExAC: 21:45194047 A / G
gnomAD v2: 21-45194047-A-G
gnomAD v4: 21-43774166-A-G
MyVariant Identifiers: chr21:g.45194047A>G (hg19) chr21:g.43774166A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774166A>G , CM000683.2:g.43774166A>G GRCh38
NC_000021.8:g.45194047A>G , CM000683.1:g.45194047A>G GRCh37
NC_000021.7:g.44018475A>G NCBI36
NG_011545.1:g.7213T>C , LRG_485:g.7213T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*36T>C MANE Select ENSP00000291568.6:n.*36T>C
ENST00000480147.3:n.2103T>C
ENST00000639959.1:c.200T>C
ENST00000640406.1:c.*408T>C ENSP00000492672.1:n.*408T>C
ENST00000675996.1:n.758T>C
ENST00000291568.5:c.*36T>C ENSP00000291568.5:n.*36T>C
NM_000100.3:c.*36T>C , LRG_485t1:c.*36T>C NP_000091.1:n.*36T>C
NM_000100.4:c.*36T>C MANE Select NP_000091.1:n.*36T>C
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