Canonical Allele Identifier: CA2418225514
Gene: PDHA1 HGNC NCBI

Linked Data

dbSNP Id: rs2063242089

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359412_19359426dup , CM000685.2:g.19359412_19359426dup GRCh38
NC_000023.10:g.19377530_19377544dup , CM000685.1:g.19377530_19377544dup GRCh37
NC_000023.9:g.19287451_19287465dup NCBI36
NG_016781.1:g.20520_20534dup
NG_021184.1:g.160836_160850dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.1030-77_1030-63dup ENSP00000348062.6:n.1030-77_1030-63dup
ENST00000379805.4:c.*701-77_*701-63dup ENSP00000369133.3:n.*701-77_*701-63dup
ENST00000417819.6:c.1093-77_1093-63dup ENSP00000404616.2:n.1093-77_1093-63dup
ENST00000423505.6:c.1123-77_1123-63dup ENSP00000406473.2:n.1123-77_1123-63dup
ENST00000481733.2:n.804-77_804-63dup
ENST00000696704.1:c.*341-77_*341-63dup ENSP00000512823.1:n.*341-77_*341-63dup
ENST00000696705.1:c.*464-77_*464-63dup ENSP00000512824.1:n.*464-77_*464-63dup
ENST00000422285.7:c.1009-77_1009-63dup MANE Select ENSP00000394382.2:n.1009-77_1009-63dup
ENST00000379804.1:c.166-77_166-63dup ENSP00000369132.1:n.166-77_166-63dup
ENST00000379806.9:c.1123-77_1123-63dup ENSP00000369134.5:n.1123-77_1123-63dup
ENST00000422285.6:c.1009-77_1009-63dup ENSP00000394382.2:n.1009-77_1009-63dup
ENST00000478795.1:n.448-77_448-63dup
ENST00000540249.5:c.916-77_916-63dup ENSP00000440761.1:n.916-77_916-63dup
ENST00000545074.5:c.1030-77_1030-63dup ENSP00000438550.1:n.1030-77_1030-63dup
NM_000284.3:c.1009-77_1009-63dup NP_000275.1:n.1009-77_1009-63dup
NM_001173454.1:c.1123-77_1123-63dup NP_001166925.1:n.1123-77_1123-63dup
NM_001173455.1:c.1030-77_1030-63dup NP_001166926.1:n.1030-77_1030-63dup
NM_001173456.1:c.916-77_916-63dup NP_001166927.1:n.916-77_916-63dup
XM_011545531.1:c.1144-77_1144-63dup XP_011543833.1:n.1144-77_1144-63dup
XM_011545532.1:c.1051-77_1051-63dup XP_011543834.1:n.1051-77_1051-63dup
XM_017029574.2:c.1030-77_1030-63dup XP_016885063.1:n.1030-77_1030-63dup
NM_000284.4:c.1009-77_1009-63dup MANE Select NP_000275.1:n.1009-77_1009-63dup
NM_001173454.2:c.1123-77_1123-63dup NP_001166925.1:n.1123-77_1123-63dup
NM_001173455.2:c.1030-77_1030-63dup NP_001166926.1:n.1030-77_1030-63dup
NM_001173456.2:c.916-77_916-63dup NP_001166927.1:n.916-77_916-63dup