Canonical Allele Identifier: CA379508724

Gene: LDHA

Linked Data

• gnomAD v4: 11-18407148-T-G
• MyVariant Identifiers: chr11:g.18428695T>G (hg19) ; chr11:g.18407148T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18407148T>G , CM000673.2:g.18407148T>G	GRCh38
NC_000011.9:g.18428695T>G , CM000673.1:g.18428695T>G	GRCh37
NC_000011.8:g.18385271T>G	NCBI36
NG_008185.1:g.17714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422447.8:c.866T>G MANE Select	ENSP00000395337.3:p.Leu289Arg
ENST00000227157.8:c.*16T>G	ENSP00000227157.4:n.*16T>G
ENST00000375710.7:n.1733T>G
ENST00000379412.9:c.866T>G	ENSP00000368722.5:p.Leu289Arg
ENST00000396222.6:c.688-91T>G	ENSP00000379524.2:n.688-91T>G
ENST00000422447.7:c.866T>G	ENSP00000395337.3:p.Leu289Arg
ENST00000430553.6:c.692T>G	ENSP00000406172.2:p.Leu231Arg
ENST00000538451.1:n.753T>G
ENST00000540430.5:c.953T>G	ENSP00000445175.1:p.Leu318Arg
ENST00000541097.5:c.*204T>G	ENSP00000443362.1:n.*204T>G
ENST00000542179.1:c.866T>G	ENSP00000445331.1:p.Leu289Arg
ENST00000545215.5:c.*610T>G	ENSP00000442637.1:n.*610T>G
NM_001135239.1:c.692T>G	NP_001128711.1:p.Leu231Arg
NM_001165414.1:c.953T>G	NP_001158886.1:p.Leu318Arg
NM_001165415.1:c.688-91T>G	NP_001158887.1:n.688-91T>G
NM_001165416.1:c.*16T>G	NP_001158888.1:n.*16T>G
NM_005566.3:c.866T>G	NP_005557.1:p.Leu289Arg
NR_028500.1:n.1020T>G
NM_005566.4:c.866T>G MANE Select	NP_005557.1:p.Leu289Arg
NM_001165415.2:c.688-91T>G	NP_001158887.1:n.688-91T>G
NM_001135239.2:c.692T>G	NP_001128711.1:p.Leu231Arg
NM_001165414.2:c.953T>G	NP_001158886.1:p.Leu318Arg
NM_001165416.2:c.*16T>G	NP_001158888.1:n.*16T>G
NR_028500.2:n.846T>G