Canonical Allele Identifier: CA640522676
Gene: PDHA1 HGNC NCBI

Linked Data

dbSNP Id: rs753648108
gnomAD v2: X-19377851-G-GTCAATGAAAT
gnomAD v4: X-19359733-G-GTCAATGAAAT
MyVariant Identifiers: chrX:g.19377861_19377862insTCAATGAAAT (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359746_19359755dup , CM000685.2:g.19359746_19359755dup GRCh38
NC_000023.10:g.19377864_19377873dup , CM000685.1:g.19377864_19377873dup GRCh37
NC_000023.9:g.19287785_19287794dup NCBI36
NG_016781.1:g.20854_20863dup
NG_021184.1:g.160519_160528dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*93_*102dup ENSP00000348062.6:n.*93_*102dup
ENST00000379805.4:c.*958_*967dup ENSP00000369133.3:n.*958_*967dup
ENST00000417819.6:c.*93_*102dup ENSP00000404616.2:n.*93_*102dup
ENST00000423505.6:c.*93_*102dup ENSP00000406473.2:n.*93_*102dup
ENST00000481733.2:n.1061_1070dup
ENST00000696704.1:c.*598_*607dup ENSP00000512823.1:n.*598_*607dup
ENST00000696705.1:c.*721_*730dup ENSP00000512824.1:n.*721_*730dup
ENST00000422285.7:c.*93_*102dup MANE Select ENSP00000394382.2:n.*93_*102dup
ENST00000379804.1:c.*93_*102dup ENSP00000369132.1:n.*93_*102dup
ENST00000379806.9:c.*93_*102dup ENSP00000369134.5:n.*93_*102dup
ENST00000422285.6:c.*93_*102dup ENSP00000394382.2:n.*93_*102dup
ENST00000478795.1:n.705_714dup
ENST00000540249.5:c.*93_*102dup ENSP00000440761.1:n.*93_*102dup
ENST00000545074.5:c.*93_*102dup ENSP00000438550.1:n.*93_*102dup
NM_000284.3:c.*93_*102dup NP_000275.1:n.*93_*102dup
NM_001173454.1:c.*93_*102dup NP_001166925.1:n.*93_*102dup
NM_001173455.1:c.*93_*102dup NP_001166926.1:n.*93_*102dup
NM_001173456.1:c.*93_*102dup NP_001166927.1:n.*93_*102dup
XM_011545531.1:c.*93_*102dup XP_011543833.1:n.*93_*102dup
XM_011545532.1:c.*93_*102dup XP_011543834.1:n.*93_*102dup
XM_017029574.2:c.*93_*102dup XP_016885063.1:n.*93_*102dup
NM_000284.4:c.*93_*102dup MANE Select NP_000275.1:n.*93_*102dup
NM_001173454.2:c.*93_*102dup NP_001166925.1:n.*93_*102dup
NM_001173455.2:c.*93_*102dup NP_001166926.1:n.*93_*102dup
NM_001173456.2:c.*93_*102dup NP_001166927.1:n.*93_*102dup
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