Canonical Allele Identifier: CA2418225527
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359432T= , CM000685.2:g.19359432T= GRCh38
NC_000023.10:g.19377550T= , CM000685.1:g.19377550T= GRCh37
NC_000023.9:g.19287471T= NCBI36
NG_016781.1:g.20540T=
NG_021184.1:g.160830A=

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1030-57T= ENSP00000348062.6:n.1030-57T=
ENST00000379805.4:c.*701-57T= ENSP00000369133.3:n.*701-57T=
ENST00000417819.6:c.1093-57T= ENSP00000404616.2:n.1093-57T=
ENST00000423505.6:c.1123-57T= ENSP00000406473.2:n.1123-57T=
ENST00000481733.2:n.804-57T=
ENST00000696704.1:c.*341-57T= ENSP00000512823.1:n.*341-57T=
ENST00000696705.1:c.*464-57T= ENSP00000512824.1:n.*464-57T=
ENST00000422285.7:c.1009-57T= MANE Select ENSP00000394382.2:n.1009-57T=
ENST00000379804.1:c.166-57T= ENSP00000369132.1:n.166-57T=
ENST00000379806.9:c.1123-57T= ENSP00000369134.5:n.1123-57T=
ENST00000422285.6:c.1009-57T= ENSP00000394382.2:n.1009-57T=
ENST00000478795.1:n.448-57T=
ENST00000540249.5:c.916-57T= ENSP00000440761.1:n.916-57T=
ENST00000545074.5:c.1030-57T= ENSP00000438550.1:n.1030-57T=
NM_000284.3:c.1009-57T= NP_000275.1:n.1009-57T=
NM_001173454.1:c.1123-57T= NP_001166925.1:n.1123-57T=
NM_001173455.1:c.1030-57T= NP_001166926.1:n.1030-57T=
NM_001173456.1:c.916-57T= NP_001166927.1:n.916-57T=
XM_011545531.1:c.1144-57T= XP_011543833.1:n.1144-57T=
XM_011545532.1:c.1051-57T= XP_011543834.1:n.1051-57T=
XM_017029574.2:c.1030-57T= XP_016885063.1:n.1030-57T=
NM_000284.4:c.1009-57T= MANE Select NP_000275.1:n.1009-57T=
NM_001173454.2:c.1123-57T= NP_001166925.1:n.1123-57T=
NM_001173455.2:c.1030-57T= NP_001166926.1:n.1030-57T=
NM_001173456.2:c.916-57T= NP_001166927.1:n.916-57T=