Canonical Allele Identifier: CA117540
Gene: HSPB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5429
ClinVar RCV Id: RCV000005762 RCV001091910
dbSNP Id: rs139382018
ExAC: 5:53751640 G / T
gnomAD v2: 5-53751640-G-T
gnomAD v3: 5-54455810-G-T
gnomAD v4: 5-54455810-G-T
MyVariant Identifiers: chr5:g.53751640G>T (hg19) chr5:g.54455810G>T (hg38)
PubMed: PMID:20142617
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.54455810G>T , CM000667.2:g.54455810G>T GRCh38
NC_000005.9:g.53751640G>T , CM000667.1:g.53751640G>T GRCh37
NC_000005.8:g.53787397G>T NCBI36
NG_027758.1:g.5210G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302005.3:c.21G>T MANE Select ENSP00000303394.1:p.Arg7Ser
ENST00000302005.2:c.21G>T ENSP00000303394.1:p.Arg7Ser
NM_006308.2:c.21G>T NP_006299.1:p.Arg7Ser
NM_006308.3:c.21G>T MANE Select NP_006299.1:p.Arg7Ser
Search 100 bp 5'
Search 100 bp 3'