Canonical Allele Identifier: CA873742601

Gene: PDHA1

Linked Data

• dbSNP Id: rs1159701585
• gnomAD v3: X-19359456-CTAAAACCTTT-C
• gnomAD v4: X-19359456-CTAAAACCTTT-C
• MyVariant Identifiers: chrX:g.19377575_19377584del (hg19) ; chrX:g.19359457_19359466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359459_19359468del , CM000685.2:g.19359459_19359468del	GRCh38
NC_000023.10:g.19377577_19377586del , CM000685.1:g.19377577_19377586del	GRCh37
NC_000023.9:g.19287498_19287507del	NCBI36
NG_016781.1:g.20567_20576del
NG_021184.1:g.160796_160805del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1030-30_1030-21del	ENSP00000348062.6:n.1030-30_1030-21del
ENST00000379805.4:c.*701-30_*701-21del	ENSP00000369133.3:n.*701-30_*701-21del
ENST00000417819.6:c.1093-30_1093-21del	ENSP00000404616.2:n.1093-30_1093-21del
ENST00000423505.6:c.1123-30_1123-21del	ENSP00000406473.2:n.1123-30_1123-21del
ENST00000481733.2:n.804-30_804-21del
ENST00000696704.1:c.*341-30_*341-21del	ENSP00000512823.1:n.*341-30_*341-21del
ENST00000696705.1:c.*464-30_*464-21del	ENSP00000512824.1:n.*464-30_*464-21del
ENST00000422285.7:c.1009-30_1009-21del MANE Select	ENSP00000394382.2:n.1009-30_1009-21del
ENST00000379804.1:c.166-30_166-21del	ENSP00000369132.1:n.166-30_166-21del
ENST00000379806.9:c.1123-30_1123-21del	ENSP00000369134.5:n.1123-30_1123-21del
ENST00000422285.6:c.1009-30_1009-21del	ENSP00000394382.2:n.1009-30_1009-21del
ENST00000478795.1:n.448-30_448-21del
ENST00000540249.5:c.916-30_916-21del	ENSP00000440761.1:n.916-30_916-21del
ENST00000545074.5:c.1030-30_1030-21del	ENSP00000438550.1:n.1030-30_1030-21del
NM_000284.3:c.1009-30_1009-21del	NP_000275.1:n.1009-30_1009-21del
NM_001173454.1:c.1123-30_1123-21del	NP_001166925.1:n.1123-30_1123-21del
NM_001173455.1:c.1030-30_1030-21del	NP_001166926.1:n.1030-30_1030-21del
NM_001173456.1:c.916-30_916-21del	NP_001166927.1:n.916-30_916-21del
XM_011545531.1:c.1144-30_1144-21del	XP_011543833.1:n.1144-30_1144-21del
XM_011545532.1:c.1051-30_1051-21del	XP_011543834.1:n.1051-30_1051-21del
XM_017029574.2:c.1030-30_1030-21del	XP_016885063.1:n.1030-30_1030-21del
NM_000284.4:c.1009-30_1009-21del MANE Select	NP_000275.1:n.1009-30_1009-21del
NM_001173454.2:c.1123-30_1123-21del	NP_001166925.1:n.1123-30_1123-21del
NM_001173455.2:c.1030-30_1030-21del	NP_001166926.1:n.1030-30_1030-21del
NM_001173456.2:c.916-30_916-21del	NP_001166927.1:n.916-30_916-21del