Canonical Allele Identifier: CA3264649

Gene: HSPB3

Linked Data

• ClinVar Variation Id: 471413
• ClinVar RCV Id: RCV000541937 ; RCV000592139
• dbSNP Id: rs147724326
• ExAC: 5:53751890 G / A
• gnomAD v2: 5-53751890-G-A
• gnomAD v3: 5-54456060-G-A
• gnomAD v4: 5-54456060-G-A
• MyVariant Identifiers: chr5:g.53751890G>A (hg19) ; chr5:g.54456060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.54456060G>A , CM000667.2:g.54456060G>A	GRCh38
NC_000005.9:g.53751890G>A , CM000667.1:g.53751890G>A	GRCh37
NC_000005.8:g.53787647G>A	NCBI36
NG_027758.1:g.5460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302005.3:c.271G>A MANE Select	ENSP00000303394.1:p.Glu91Lys
ENST00000302005.2:c.271G>A	ENSP00000303394.1:p.Glu91Lys
NM_006308.2:c.271G>A	NP_006299.1:p.Glu91Lys
NM_006308.3:c.271G>A MANE Select	NP_006299.1:p.Glu91Lys