Canonical Allele Identifier: CA247853769

Gene: HMGB1

Linked Data

• dbSNP Id: rs528286285
• gnomAD v2: 13-31033257-A-G
• gnomAD v3: 13-30459120-A-G
• gnomAD v4: 13-30459120-A-G
• MyVariant Identifiers: chr13:g.31033257A>G (hg19) ; chr13:g.30459120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459120A>G , CM000675.2:g.30459120A>G	GRCh38
NC_000013.10:g.31033257A>G , CM000675.1:g.31033257A>G	GRCh37
NC_000013.9:g.29931257A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341423.10:c.*2237T>C MANE Select	ENSP00000345347.5:n.*2237T>C
ENST00000341423.9:c.*2237T>C	ENSP00000345347.5:n.*2237T>C
ENST00000405805.5:c.*2237T>C	ENSP00000384678.1:n.*2237T>C
NM_001313892.1:c.*2237T>C	NP_001300821.1:n.*2237T>C
NM_001313893.1:c.*2237T>C	NP_001300822.1:n.*2237T>C
NM_002128.4:c.*2237T>C	NP_002119.1:n.*2237T>C
NM_002128.5:c.*2237T>C	NP_002119.1:n.*2237T>C
NM_001363661.1:c.*2458T>C	NP_001350590.1:n.*2458T>C
NM_002128.6:c.*2237T>C	NP_002119.1:n.*2237T>C
NM_002128.7:c.*2237T>C MANE Select	NP_002119.1:n.*2237T>C
NM_001370339.1:c.*2563T>C	NP_001357268.1:n.*2563T>C
NM_001370340.1:c.*2237T>C	NP_001357269.1:n.*2237T>C
NM_001370341.1:c.*2237T>C	NP_001357270.1:n.*2237T>C
NM_001313892.2:c.*2237T>C	NP_001300821.1:n.*2237T>C
NM_001363661.2:c.*2458T>C	NP_001350590.1:n.*2458T>C