Canonical Allele Identifier: CA10624979
Gene: HSPB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 353895
ClinVar RCV Id: RCV000374649 RCV003430913
dbSNP Id: rs577774043
gnomAD v2: 5-53751491-C-T
gnomAD v3: 5-54455661-C-T
gnomAD v4: 5-54455661-C-T
MyVariant Identifiers: chr5:g.53751491C>T (hg19) chr5:g.54455661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.54455661C>T , CM000667.2:g.54455661C>T GRCh38
NC_000005.9:g.53751491C>T , CM000667.1:g.53751491C>T GRCh37
NC_000005.8:g.53787248C>T NCBI36
NG_027758.1:g.5061C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302005.2:c.-129C>T ENSP00000303394.1:n.-129C>T
NM_006308.2:c.-129C>T NP_006299.1:n.-129C>T
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