Canonical Allele Identifier: CA10363235

Gene: PDHA1

Linked Data

• dbSNP Id: rs1555935635
• ExAC: X:19377792 A / ATACCTTCAGGGGGCTAC
• gnomAD v2: X-19377792-A-ATACCTTCAGGGGGCTAC
• gnomAD v4: X-19359674-A-ATACCTTCAGGGGGCTAC
• MyVariant Identifiers: chrX:g.19377792_19377793insTACCTTCAGGGGGCTAC (hg19) ; chrX:g.19359674_19359675insTACCTTCAGGGGGCTAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359675_19359691dup , CM000685.2:g.19359675_19359691dup	GRCh38
NC_000023.10:g.19377793_19377809dup , CM000685.1:g.19377793_19377809dup	GRCh37
NC_000023.9:g.19287714_19287730dup	NCBI36
NG_016781.1:g.20783_20799dup
NG_021184.1:g.160571_160587dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*22_*38dup	ENSP00000348062.6:n.*22_*38dup
ENST00000379805.4:c.*887_*903dup	ENSP00000369133.3:n.*887_*903dup
ENST00000417819.6:c.*22_*38dup	ENSP00000404616.2:n.*22_*38dup
ENST00000423505.6:c.*22_*38dup	ENSP00000406473.2:n.*22_*38dup
ENST00000481733.2:n.990_1006dup
ENST00000696704.1:c.*527_*543dup	ENSP00000512823.1:n.*527_*543dup
ENST00000696705.1:c.*650_*666dup	ENSP00000512824.1:n.*650_*666dup
ENST00000422285.7:c.*22_*38dup MANE Select	ENSP00000394382.2:n.*22_*38dup
ENST00000379804.1:c.*22_*38dup	ENSP00000369132.1:n.*22_*38dup
ENST00000379806.9:c.*22_*38dup	ENSP00000369134.5:n.*22_*38dup
ENST00000422285.6:c.*22_*38dup	ENSP00000394382.2:n.*22_*38dup
ENST00000478795.1:n.634_650dup
ENST00000540249.5:c.*22_*38dup	ENSP00000440761.1:n.*22_*38dup
ENST00000545074.5:c.*22_*38dup	ENSP00000438550.1:n.*22_*38dup
NM_000284.3:c.*22_*38dup	NP_000275.1:n.*22_*38dup
NM_001173454.1:c.*22_*38dup	NP_001166925.1:n.*22_*38dup
NM_001173455.1:c.*22_*38dup	NP_001166926.1:n.*22_*38dup
NM_001173456.1:c.*22_*38dup	NP_001166927.1:n.*22_*38dup
XM_011545531.1:c.*22_*38dup	XP_011543833.1:n.*22_*38dup
XM_011545532.1:c.*22_*38dup	XP_011543834.1:n.*22_*38dup
XM_017029574.2:c.*22_*38dup	XP_016885063.1:n.*22_*38dup
NM_000284.4:c.*22_*38dup MANE Select	NP_000275.1:n.*22_*38dup
NM_001173454.2:c.*22_*38dup	NP_001166925.1:n.*22_*38dup
NM_001173455.2:c.*22_*38dup	NP_001166926.1:n.*22_*38dup
NM_001173456.2:c.*22_*38dup	NP_001166927.1:n.*22_*38dup