Canonical Allele Identifier: CA6480440

Gene: LDHB

Linked Data

• dbSNP Id: rs79867159
• ExAC: 12:21794869 CT / C
• gnomAD v2: 12-21794869-CT-C
• gnomAD v3: 12-21641935-CT-C
• gnomAD v4: 12-21641935-CT-C
• MyVariant Identifiers: chr12:g.21794870del (hg19) ; chr12:g.21641936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21641945del , CM000674.2:g.21641945del	GRCh38
NC_000012.11:g.21794879del , CM000674.1:g.21794879del	GRCh37
NC_000012.10:g.21686146del	NCBI36
NG_017038.1:g.20920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647960.1:c.595+16del	ENSP00000497202.1:n.595+16del
ENST00000673047.2:c.595+16del	ENSP00000500484.2:n.595+16del
ENST00000350669.5:c.595+16del MANE Select	ENSP00000229319.1:n.595+16del
ENST00000396075.5:c.595+16del	ENSP00000379385.1:n.595+16del
ENST00000396076.5:c.595+16del	ENSP00000379386.1:n.595+16del
NM_001174097.1:c.595+16del	NP_001167568.1:n.595+16del
NM_001174097.2:c.595+16del	NP_001167568.1:n.595+16del
NM_001315537.1:c.595+16del	NP_001302466.1:n.595+16del
NM_002300.6:c.595+16del	NP_002291.1:n.595+16del
NM_002300.7:c.595+16del	NP_002291.1:n.595+16del
XM_006719074.2:c.595+16del	XP_006719137.1:n.595+16del
NM_001174097.3:c.595+16del	NP_001167568.1:n.595+16del
NM_001315537.2:c.595+16del	NP_001302466.1:n.595+16del
NM_002300.8:c.595+16del MANE Select	NP_002291.1:n.595+16del