Canonical Allele Identifier: CA2622546354

Gene: HMGB1

Linked Data

• gnomAD v4: 13-30459088-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459088A>G , CM000675.2:g.30459088A>G	GRCh38
NC_000013.10:g.31033225A>G , CM000675.1:g.31033225A>G	GRCh37
NC_000013.9:g.29931225A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341423.10:c.*2269T>C MANE Select	ENSP00000345347.5:n.*2269T>C
ENST00000341423.9:c.*2269T>C	ENSP00000345347.5:n.*2269T>C
ENST00000405805.5:c.*2269T>C	ENSP00000384678.1:n.*2269T>C
NM_001313892.1:c.*2269T>C	NP_001300821.1:n.*2269T>C
NM_001313893.1:c.*2269T>C	NP_001300822.1:n.*2269T>C
NM_002128.4:c.*2269T>C	NP_002119.1:n.*2269T>C
NM_002128.5:c.*2269T>C	NP_002119.1:n.*2269T>C
NM_001363661.1:c.*2490T>C	NP_001350590.1:n.*2490T>C
NM_002128.6:c.*2269T>C	NP_002119.1:n.*2269T>C
NM_002128.7:c.*2269T>C MANE Select	NP_002119.1:n.*2269T>C
NM_001370339.1:c.*2595T>C	NP_001357268.1:n.*2595T>C
NM_001370340.1:c.*2269T>C	NP_001357269.1:n.*2269T>C
NM_001370341.1:c.*2269T>C	NP_001357270.1:n.*2269T>C
NM_001313892.2:c.*2269T>C	NP_001300821.1:n.*2269T>C
NM_001363661.2:c.*2490T>C	NP_001350590.1:n.*2490T>C