Canonical Allele Identifier: CA2622546349

Gene: HMGB1

Linked Data

• gnomAD v4: 13-30459039-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.30459039C>A , CM000675.2:g.30459039C>A	GRCh38
NC_000013.10:g.31033176C>A , CM000675.1:g.31033176C>A	GRCh37
NC_000013.9:g.29931176C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341423.10:c.*2318G>T MANE Select	ENSP00000345347.5:n.*2318G>T
ENST00000341423.9:c.*2318G>T	ENSP00000345347.5:n.*2318G>T
ENST00000405805.5:c.*2318G>T	ENSP00000384678.1:n.*2318G>T
NM_001313892.1:c.*2318G>T	NP_001300821.1:n.*2318G>T
NM_001313893.1:c.*2318G>T	NP_001300822.1:n.*2318G>T
NM_002128.4:c.*2318G>T	NP_002119.1:n.*2318G>T
NM_002128.5:c.*2318G>T	NP_002119.1:n.*2318G>T
NM_001363661.1:c.*2539G>T	NP_001350590.1:n.*2539G>T
NM_002128.6:c.*2318G>T	NP_002119.1:n.*2318G>T
NM_002128.7:c.*2318G>T MANE Select	NP_002119.1:n.*2318G>T
NM_001370339.1:c.*2644G>T	NP_001357268.1:n.*2644G>T
NM_001370340.1:c.*2318G>T	NP_001357269.1:n.*2318G>T
NM_001370341.1:c.*2318G>T	NP_001357270.1:n.*2318G>T
NM_001313892.2:c.*2318G>T	NP_001300821.1:n.*2318G>T
NM_001363661.2:c.*2539G>T	NP_001350590.1:n.*2539G>T