Canonical Allele Identifier: CA697235479

Gene: HMGB1

Linked Data

• dbSNP Id: rs1253249474
• gnomAD v3: 13-30459053-G-C
• gnomAD v4: 13-30459053-G-C
• MyVariant Identifiers: chr13:g.31033190G>C (hg19) ; chr13:g.30459053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459053G>C , CM000675.2:g.30459053G>C	GRCh38
NC_000013.10:g.31033190G>C , CM000675.1:g.31033190G>C	GRCh37
NC_000013.9:g.29931190G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341423.10:c.*2304C>G MANE Select	ENSP00000345347.5:n.*2304C>G
ENST00000341423.9:c.*2304C>G	ENSP00000345347.5:n.*2304C>G
ENST00000405805.5:c.*2304C>G	ENSP00000384678.1:n.*2304C>G
NM_001313892.1:c.*2304C>G	NP_001300821.1:n.*2304C>G
NM_001313893.1:c.*2304C>G	NP_001300822.1:n.*2304C>G
NM_002128.4:c.*2304C>G	NP_002119.1:n.*2304C>G
NM_002128.5:c.*2304C>G	NP_002119.1:n.*2304C>G
NM_001363661.1:c.*2525C>G	NP_001350590.1:n.*2525C>G
NM_002128.6:c.*2304C>G	NP_002119.1:n.*2304C>G
NM_002128.7:c.*2304C>G MANE Select	NP_002119.1:n.*2304C>G
NM_001370339.1:c.*2630C>G	NP_001357268.1:n.*2630C>G
NM_001370340.1:c.*2304C>G	NP_001357269.1:n.*2304C>G
NM_001370341.1:c.*2304C>G	NP_001357270.1:n.*2304C>G
NM_001313892.2:c.*2304C>G	NP_001300821.1:n.*2304C>G
NM_001363661.2:c.*2525C>G	NP_001350590.1:n.*2525C>G