Canonical Allele Identifier: CA3264679

Gene: HSPB3

Linked Data

• ClinVar Variation Id: 353903
• ClinVar RCV Id: RCV000711984 ; RCV000616062 ; RCV001700081
• dbSNP Id: rs7823
• ExAC: 5:53751988 T / C
• gnomAD v2: 5-53751988-T-C
• gnomAD v3: 5-54456158-T-C
• gnomAD v4: 5-54456158-T-C
• MyVariant Identifiers: chr5:g.53751988T>C (hg19) ; chr5:g.54456158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.54456158T>C , CM000667.2:g.54456158T>C	GRCh38
NC_000005.9:g.53751988T>C , CM000667.1:g.53751988T>C	GRCh37
NC_000005.8:g.53787745T>C	NCBI36
NG_027758.1:g.5558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302005.3:c.369T>C MANE Select	ENSP00000303394.1:p.Gly123=
ENST00000302005.2:c.369T>C	ENSP00000303394.1:p.Gly123=
NM_006308.2:c.369T>C	NP_006299.1:p.Gly123=
NM_006308.3:c.369T>C MANE Select	NP_006299.1:p.Gly123=