Canonical Allele Identifier: CA247853774

Gene: HMGB1

Linked Data

• dbSNP Id: rs1005522475
• gnomAD v3: 13-30459167-G-T
• gnomAD v4: 13-30459167-G-T
• MyVariant Identifiers: chr13:g.31033304G>T (hg19) ; chr13:g.30459167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459167G>T , CM000675.2:g.30459167G>T	GRCh38
NC_000013.10:g.31033304G>T , CM000675.1:g.31033304G>T	GRCh37
NC_000013.9:g.29931304G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341423.10:c.*2190C>A MANE Select	ENSP00000345347.5:n.*2190C>A
ENST00000341423.9:c.*2190C>A	ENSP00000345347.5:n.*2190C>A
ENST00000405805.5:c.*2190C>A	ENSP00000384678.1:n.*2190C>A
NM_001313892.1:c.*2190C>A	NP_001300821.1:n.*2190C>A
NM_001313893.1:c.*2190C>A	NP_001300822.1:n.*2190C>A
NM_002128.4:c.*2190C>A	NP_002119.1:n.*2190C>A
NM_002128.5:c.*2190C>A	NP_002119.1:n.*2190C>A
NM_001363661.1:c.*2411C>A	NP_001350590.1:n.*2411C>A
NM_002128.6:c.*2190C>A	NP_002119.1:n.*2190C>A
NM_002128.7:c.*2190C>A MANE Select	NP_002119.1:n.*2190C>A
NM_001370339.1:c.*2516C>A	NP_001357268.1:n.*2516C>A
NM_001370340.1:c.*2190C>A	NP_001357269.1:n.*2190C>A
NM_001370341.1:c.*2190C>A	NP_001357270.1:n.*2190C>A
NM_001313892.2:c.*2190C>A	NP_001300821.1:n.*2190C>A
NM_001363661.2:c.*2411C>A	NP_001350590.1:n.*2411C>A