Canonical Allele Identifier: CA640522742

Gene: PDHA1

Linked Data

• dbSNP Id: rs1258410600
• gnomAD v2: X-19378006-T-TACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTC
• gnomAD v3: X-19359888-T-TACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTC
• gnomAD v4: X-19359888-T-TACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTC
• MyVariant Identifiers: chrX:g.19378006_19378007insACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTC (hg19) ; chrX:g.19359888_19359889insACTCTAATTATGAAAAGGAAGAACAATTCCTTGTATGCCTGTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359889_19359933dup , CM000685.2:g.19359889_19359933dup	GRCh38
NC_000023.10:g.19378007_19378051dup , CM000685.1:g.19378007_19378051dup	GRCh37
NC_000023.9:g.19287928_19287972dup	NCBI36
NG_016781.1:g.20997_21041dup
NG_021184.1:g.160329_160373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*236_*280dup	ENSP00000348062.6:n.*236_*280dup
ENST00000423505.6:c.*236_*280dup	ENSP00000406473.2:n.*236_*280dup
ENST00000696704.1:c.*741_*785dup	ENSP00000512823.1:n.*741_*785dup
ENST00000696705.1:c.*864_*908dup	ENSP00000512824.1:n.*864_*908dup
ENST00000422285.7:c.*236_*280dup MANE Select	ENSP00000394382.2:n.*236_*280dup
ENST00000379806.9:c.*236_*280dup	ENSP00000369134.5:n.*236_*280dup
ENST00000422285.6:c.*236_*280dup	ENSP00000394382.2:n.*236_*280dup
ENST00000540249.5:c.*236_*280dup	ENSP00000440761.1:n.*236_*280dup
ENST00000545074.5:c.*236_*280dup	ENSP00000438550.1:n.*236_*280dup
NM_000284.3:c.*236_*280dup	NP_000275.1:n.*236_*280dup
NM_001173454.1:c.*236_*280dup	NP_001166925.1:n.*236_*280dup
NM_001173455.1:c.*236_*280dup	NP_001166926.1:n.*236_*280dup
NM_001173456.1:c.*236_*280dup	NP_001166927.1:n.*236_*280dup
XM_011545531.1:c.*236_*280dup	XP_011543833.1:n.*236_*280dup
XM_011545532.1:c.*236_*280dup	XP_011543834.1:n.*236_*280dup
NM_000284.4:c.*236_*280dup MANE Select	NP_000275.1:n.*236_*280dup
NM_001173454.2:c.*236_*280dup	NP_001166925.1:n.*236_*280dup
NM_001173455.2:c.*236_*280dup	NP_001166926.1:n.*236_*280dup
NM_001173456.2:c.*236_*280dup	NP_001166927.1:n.*236_*280dup