Canonical Allele Identifier: CA321725339
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs971973529
gnomAD v2: 21-45194053-C-T
gnomAD v3: 21-43774172-C-T
gnomAD v4: 21-43774172-C-T
MyVariant Identifiers: chr21:g.45194053C>T (hg19) chr21:g.43774172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774172C>T , CM000683.2:g.43774172C>T GRCh38
NC_000021.8:g.45194053C>T , CM000683.1:g.45194053C>T GRCh37
NC_000021.7:g.44018481C>T NCBI36
NG_011545.1:g.7207G>A , LRG_485:g.7207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*30G>A MANE Select ENSP00000291568.6:n.*30G>A
ENST00000480147.3:n.2097G>A
ENST00000639959.1:c.194G>A
ENST00000640406.1:c.*402G>A ENSP00000492672.1:n.*402G>A
ENST00000675996.1:n.752G>A
ENST00000291568.5:c.*30G>A ENSP00000291568.5:n.*30G>A
NM_000100.3:c.*30G>A , LRG_485t1:c.*30G>A NP_000091.1:n.*30G>A
NM_000100.4:c.*30G>A MANE Select NP_000091.1:n.*30G>A
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