Canonical Allele Identifier: CA379508734
Gene: LDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18407151G>T , CM000673.2:g.18407151G>T GRCh38
NC_000011.9:g.18428698G>T , CM000673.1:g.18428698G>T GRCh37
NC_000011.8:g.18385274G>T NCBI36
NG_008185.1:g.17717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000422447.8:c.869G>T MANE Select ENSP00000395337.3:p.Ser290Ile
ENST00000227157.8:c.*19G>T ENSP00000227157.4:n.*19G>T
ENST00000375710.7:n.1736G>T
ENST00000379412.9:c.869G>T ENSP00000368722.5:p.Ser290Ile
ENST00000396222.6:c.688-88G>T ENSP00000379524.2:n.688-88G>T
ENST00000422447.7:c.869G>T ENSP00000395337.3:p.Ser290Ile
ENST00000430553.6:c.695G>T ENSP00000406172.2:p.Ser232Ile
ENST00000538451.1:n.756G>T
ENST00000540430.5:c.956G>T ENSP00000445175.1:p.Ser319Ile
ENST00000541097.5:c.*207G>T ENSP00000443362.1:n.*207G>T
ENST00000542179.1:c.869G>T ENSP00000445331.1:p.Ser290Ile
ENST00000545215.5:c.*613G>T ENSP00000442637.1:n.*613G>T
NM_001135239.1:c.695G>T NP_001128711.1:p.Ser232Ile
NM_001165414.1:c.956G>T NP_001158886.1:p.Ser319Ile
NM_001165415.1:c.688-88G>T NP_001158887.1:n.688-88G>T
NM_001165416.1:c.*19G>T NP_001158888.1:n.*19G>T
NM_005566.3:c.869G>T NP_005557.1:p.Ser290Ile
NR_028500.1:n.1023G>T
NM_005566.4:c.869G>T MANE Select NP_005557.1:p.Ser290Ile
NM_001165415.2:c.688-88G>T NP_001158887.1:n.688-88G>T
NM_001135239.2:c.695G>T NP_001128711.1:p.Ser232Ile
NM_001165414.2:c.956G>T NP_001158886.1:p.Ser319Ile
NM_001165416.2:c.*19G>T NP_001158888.1:n.*19G>T
NR_028500.2:n.849G>T