Canonical Allele Identifier: CA5911380
Community Standard Title: NM_005566.4(LDHA):c.732C>T (p.Leu244=)
Gene: LDHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18405470C>T , CM000673.2:g.18405470C>T GRCh38
NC_000011.9:g.18427017C>T , CM000673.1:g.18427017C>T GRCh37
NC_000011.8:g.18383593C>T NCBI36
NG_008185.1:g.16036C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005566.4:c.732C>T MANE Select NP_005557.1:p.Leu244=
ENST00000422447.8:c.732C>T MANE Select ENSP00000395337.3:p.Leu244=
NM_001135239.1:c.558C>T NP_001128711.1:p.Leu186=
NM_001135239.2:c.558C>T NP_001128711.1:p.Leu186=
NM_001165414.1:c.819C>T NP_001158886.1:p.Leu273=
NM_001165414.2:c.819C>T NP_001158886.1:p.Leu273=
NM_001165415.1:c.687+1682C>T NP_001158887.1:n.687+1682C>T
NM_001165415.2:c.687+1682C>T NP_001158887.1:n.687+1682C>T
NM_001165416.1:c.711-1647C>T NP_001158888.1:n.711-1647C>T
NM_001165416.2:c.711-1647C>T NP_001158888.1:n.711-1647C>T
NM_005566.3:c.732C>T NP_005557.1:p.Leu244=
NR_028500.1:n.886C>T
NR_028500.2:n.712C>T
ENST00000227157.8:c.711-1647C>T ENSP00000227157.4:n.711-1647C>T
ENST00000375710.7:n.1599C>T
ENST00000379412.9:c.732C>T ENSP00000368722.5:p.Leu244=
ENST00000396222.6:c.687+1682C>T ENSP00000379524.2:n.687+1682C>T
ENST00000422447.7:c.732C>T ENSP00000395337.3:p.Leu244=
ENST00000430553.6:c.558C>T ENSP00000406172.2:p.Leu186=
ENST00000486690.6:c.*476C>T ENSP00000441699.1:n.*476C>T
ENST00000537296.5:n.1407C>T
ENST00000538451.1:n.619C>T
ENST00000540430.5:c.819C>T ENSP00000445175.1:p.Leu273=
ENST00000541097.5:c.*70C>T ENSP00000443362.1:n.*70C>T
ENST00000542179.1:c.732C>T ENSP00000445331.1:p.Leu244=
ENST00000545215.5:c.*476C>T ENSP00000442637.1:n.*476C>T