Canonical Allele Identifier: CA478952892

Gene: LDHB

Linked Data

• dbSNP Id: rs1369262198
• gnomAD v2: 12-21794974-A-G
• gnomAD v4: 12-21642040-A-G
• MyVariant Identifiers: chr12:g.21794974A>G (hg19) ; chr12:g.21642040A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21642040A>G , CM000674.2:g.21642040A>G	GRCh38
NC_000012.11:g.21794974A>G , CM000674.1:g.21794974A>G	GRCh37
NC_000012.10:g.21686241A>G	NCBI36
NG_017038.1:g.20816T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647960.1:c.507T>C	ENSP00000497202.1:p.Ala169=
ENST00000673047.2:c.507T>C	ENSP00000500484.2:p.Ala169=
ENST00000350669.5:c.507T>C MANE Select	ENSP00000229319.1:p.Ala169=
ENST00000396075.5:c.507T>C	ENSP00000379385.1:p.Ala169=
ENST00000396076.5:c.507T>C	ENSP00000379386.1:p.Ala169=
NM_001174097.1:c.507T>C	NP_001167568.1:p.Ala169=
NM_001174097.2:c.507T>C	NP_001167568.1:p.Ala169=
NM_001315537.1:c.507T>C	NP_001302466.1:p.Ala169=
NM_002300.6:c.507T>C	NP_002291.1:p.Ala169=
NM_002300.7:c.507T>C	NP_002291.1:p.Ala169=
XM_006719074.2:c.507T>C	XP_006719137.1:p.Ala169=
NM_001174097.3:c.507T>C	NP_001167568.1:p.Ala169=
NM_001315537.2:c.507T>C	NP_001302466.1:p.Ala169=
NM_002300.8:c.507T>C MANE Select	NP_002291.1:p.Ala169=