Canonical Allele Identifier: CA325044
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214937
dbSNP Id: rs201156613

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359639A>C , CM000685.2:g.19359639A>C GRCh38
NC_000023.10:g.19377757A>C , CM000685.1:g.19377757A>C GRCh37
NC_000023.9:g.19287678A>C NCBI36
NG_016781.1:g.20747A>C
NG_021184.1:g.160623T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000422285.7:c.1159A>C MANE Select ENSP00000394382.2:p.Lys387Gln
ENST00000379804.1:c.316A>C ENSP00000369132.1:p.Lys106Gln
ENST00000379806.9:c.1273A>C ENSP00000369134.5:p.Lys425Gln
ENST00000422285.6:c.1159A>C ENSP00000394382.2:p.Lys387Gln
ENST00000478795.1:n.598A>C
ENST00000540249.5:c.1066A>C ENSP00000440761.1:p.Lys356Gln
ENST00000545074.5:c.1180A>C ENSP00000438550.1:p.Lys394Gln
NM_000284.3:c.1159A>C NP_000275.1:p.Lys387Gln
NM_001173454.1:c.1273A>C NP_001166925.1:p.Lys425Gln
NM_001173455.1:c.1180A>C NP_001166926.1:p.Lys394Gln
NM_001173456.1:c.1066A>C NP_001166927.1:p.Lys356Gln
XM_011545531.1:c.1294A>C XP_011543833.1:p.Lys432Gln
XM_011545532.1:c.1201A>C XP_011543834.1:p.Lys401Gln
XM_017029574.2:c.1180A>C XP_016885063.1:p.Lys394Gln
NM_000284.4:c.1159A>C MANE Select NP_000275.1:p.Lys387Gln
NM_001173454.2:c.1273A>C NP_001166925.1:p.Lys425Gln
NM_001173455.2:c.1180A>C NP_001166926.1:p.Lys394Gln
NM_001173456.2:c.1066A>C NP_001166927.1:p.Lys356Gln