LDH info

Canonical Allele Identifier: CA121220
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10885
dbSNP Id: rs2229137

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357664A>C , CM000685.2:g.19357664A>C GRCh38
NC_000023.10:g.19375782A>C , CM000685.1:g.19375782A>C GRCh37
NC_000023.9:g.19285703A>C NCBI36
NG_016781.1:g.18772A>C

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.844A>C VV NP_000275.1:p.Met282Leu
NM_001173454.1:c.958A>C VV NP_001166925.1:p.Met320Leu
NM_001173455.1:c.865A>C VV NP_001166926.1:p.Met289Leu
NM_001173456.1:c.751A>C VV NP_001166927.1:p.Met251Leu
XM_011545531.1:c.979A>C XP_011543833.1:p.Met327Leu
XM_011545532.1:c.886A>C XP_011543834.1:p.Met296Leu
XM_017029574.2:c.865A>C XP_016885063.1:p.Met289Leu
NM_000284.4:c.844A>C VV MANE Preferred NP_000275.1:p.Met282Leu
ENST00000379804.1:c.1A>C
ENST00000379806.9:c.958A>C ENSP00000369134.5:p.Met320Leu
ENST00000422285.6:c.844A>C ENSP00000394382.2:p.Met282Leu
ENST00000478795.1:n.283A>C
ENST00000481733.1:n.272A>C
ENST00000540249.5:c.751A>C ENSP00000440761.1:p.Met251Leu
ENST00000545074.5:c.865A>C ENSP00000438550.1:p.Met289Leu