Canonical Allele Identifier: CA2590759172

Gene: HMGB1

Linked Data

• dbSNP Id: rs2137383038
• gnomAD v3: 13-30459024-C-T
• gnomAD v4: 13-30459024-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459024C>T , CM000675.2:g.30459024C>T	GRCh38
NC_000013.10:g.31033161C>T , CM000675.1:g.31033161C>T	GRCh37
NC_000013.9:g.29931161C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341423.10:c.*2333G>A MANE Select	ENSP00000345347.5:n.*2333G>A
ENST00000341423.9:c.*2333G>A	ENSP00000345347.5:n.*2333G>A
ENST00000405805.5:c.*2333G>A	ENSP00000384678.1:n.*2333G>A
NM_001313892.1:c.*2333G>A	NP_001300821.1:n.*2333G>A
NM_001313893.1:c.*2333G>A	NP_001300822.1:n.*2333G>A
NM_002128.4:c.*2333G>A	NP_002119.1:n.*2333G>A
NM_002128.5:c.*2333G>A	NP_002119.1:n.*2333G>A
NM_001363661.1:c.*2554G>A	NP_001350590.1:n.*2554G>A
NM_002128.6:c.*2333G>A	NP_002119.1:n.*2333G>A
NM_002128.7:c.*2333G>A MANE Select	NP_002119.1:n.*2333G>A
NM_001370339.1:c.*2659G>A	NP_001357268.1:n.*2659G>A
NM_001370340.1:c.*2333G>A	NP_001357269.1:n.*2333G>A
NM_001370341.1:c.*2333G>A	NP_001357270.1:n.*2333G>A
NM_001313892.2:c.*2333G>A	NP_001300821.1:n.*2333G>A
NM_001363661.2:c.*2554G>A	NP_001350590.1:n.*2554G>A