Canonical Allele Identifier: CA6480458

Gene: LDHB

Linked Data

• dbSNP Id: rs745737131
• ExAC: 12:21794967 G / A
• gnomAD v2: 12-21794967-G-A
• gnomAD v3: 12-21642033-G-A
• gnomAD v4: 12-21642033-G-A
• MyVariant Identifiers: chr12:g.21794967G>A (hg19) ; chr12:g.21642033G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21642033G>A , CM000674.2:g.21642033G>A	GRCh38
NC_000012.11:g.21794967G>A , CM000674.1:g.21794967G>A	GRCh37
NC_000012.10:g.21686234G>A	NCBI36
NG_017038.1:g.20823C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647960.1:c.514C>T	ENSP00000497202.1:p.Arg172Cys
ENST00000673047.2:c.514C>T	ENSP00000500484.2:p.Arg172Cys
ENST00000350669.5:c.514C>T MANE Select	ENSP00000229319.1:p.Arg172Cys
ENST00000396075.5:c.514C>T	ENSP00000379385.1:p.Arg172Cys
ENST00000396076.5:c.514C>T	ENSP00000379386.1:p.Arg172Cys
NM_001174097.1:c.514C>T	NP_001167568.1:p.Arg172Cys
NM_001174097.2:c.514C>T	NP_001167568.1:p.Arg172Cys
NM_001315537.1:c.514C>T	NP_001302466.1:p.Arg172Cys
NM_002300.6:c.514C>T	NP_002291.1:p.Arg172Cys
NM_002300.7:c.514C>T	NP_002291.1:p.Arg172Cys
XM_006719074.2:c.514C>T	XP_006719137.1:p.Arg172Cys
NM_001174097.3:c.514C>T	NP_001167568.1:p.Arg172Cys
NM_001315537.2:c.514C>T	NP_001302466.1:p.Arg172Cys
NM_002300.8:c.514C>T MANE Select	NP_002291.1:p.Arg172Cys