Canonical Allele Identifier: CA873743332

Gene: PDHA1

Linked Data

• dbSNP Id: rs1438100339
• gnomAD v4: X-19359865-T-TAAAATAG
• MyVariant Identifiers: chrX:g.19377983_19377984insAAAATAG (hg19) ; chrX:g.19359865_19359866insAAAATAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359866_19359872dup , CM000685.2:g.19359866_19359872dup	GRCh38
NC_000023.10:g.19377984_19377990dup , CM000685.1:g.19377984_19377990dup	GRCh37
NC_000023.9:g.19287905_19287911dup	NCBI36
NG_016781.1:g.20974_20980dup
NG_021184.1:g.160390_160396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*213_*219dup	ENSP00000348062.6:n.*213_*219dup
ENST00000423505.6:c.*213_*219dup	ENSP00000406473.2:n.*213_*219dup
ENST00000696704.1:c.*718_*724dup	ENSP00000512823.1:n.*718_*724dup
ENST00000696705.1:c.*841_*847dup	ENSP00000512824.1:n.*841_*847dup
ENST00000422285.7:c.*213_*219dup MANE Select	ENSP00000394382.2:n.*213_*219dup
ENST00000379806.9:c.*213_*219dup	ENSP00000369134.5:n.*213_*219dup
ENST00000422285.6:c.*213_*219dup	ENSP00000394382.2:n.*213_*219dup
ENST00000540249.5:c.*213_*219dup	ENSP00000440761.1:n.*213_*219dup
ENST00000545074.5:c.*213_*219dup	ENSP00000438550.1:n.*213_*219dup
NM_000284.3:c.*213_*219dup	NP_000275.1:n.*213_*219dup
NM_001173454.1:c.*213_*219dup	NP_001166925.1:n.*213_*219dup
NM_001173455.1:c.*213_*219dup	NP_001166926.1:n.*213_*219dup
NM_001173456.1:c.*213_*219dup	NP_001166927.1:n.*213_*219dup
XM_011545531.1:c.*213_*219dup	XP_011543833.1:n.*213_*219dup
XM_011545532.1:c.*213_*219dup	XP_011543834.1:n.*213_*219dup
NM_000284.4:c.*213_*219dup MANE Select	NP_000275.1:n.*213_*219dup
NM_001173454.2:c.*213_*219dup	NP_001166925.1:n.*213_*219dup
NM_001173455.2:c.*213_*219dup	NP_001166926.1:n.*213_*219dup
NM_001173456.2:c.*213_*219dup	NP_001166927.1:n.*213_*219dup