Canonical Allele Identifier: CA640522524

Gene: PDHA1

Linked Data

• dbSNP Id: rs1035196002
• gnomAD v2: X-19376854-T-TAAC
• gnomAD v3: X-19358736-T-TAAC
• gnomAD v4: X-19358736-T-TAAC
• MyVariant Identifiers: chrX:g.19376857_19376858insAAC (hg19) ; chrX:g.19358739_19358740insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358743_19358745dup , CM000685.2:g.19358743_19358745dup	GRCh38
NC_000023.10:g.19376861_19376863dup , CM000685.1:g.19376861_19376863dup	GRCh37
NC_000023.9:g.19286782_19286784dup	NCBI36
NG_016781.1:g.19851_19853dup
NG_021184.1:g.161523_161525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-173_921-171dup	ENSP00000348062.6:n.921-173_921-171dup
ENST00000379805.4:c.*592-173_*592-171dup	ENSP00000369133.3:n.*592-173_*592-171dup
ENST00000417819.6:c.984-173_984-171dup	ENSP00000404616.2:n.984-173_984-171dup
ENST00000423505.6:c.1014-173_1014-171dup	ENSP00000406473.2:n.1014-173_1014-171dup
ENST00000481733.2:n.695-173_695-171dup
ENST00000696704.1:c.*232-173_*232-171dup	ENSP00000512823.1:n.*232-173_*232-171dup
ENST00000696705.1:c.*355-173_*355-171dup	ENSP00000512824.1:n.*355-173_*355-171dup
ENST00000422285.7:c.900-173_900-171dup MANE Select	ENSP00000394382.2:n.900-173_900-171dup
ENST00000379804.1:c.57-173_57-171dup	ENSP00000369132.1:n.57-173_57-171dup
ENST00000379806.9:c.1014-173_1014-171dup	ENSP00000369134.5:n.1014-173_1014-171dup
ENST00000422285.6:c.900-173_900-171dup	ENSP00000394382.2:n.900-173_900-171dup
ENST00000478795.1:n.339-173_339-171dup
ENST00000481733.1:n.328-173_328-171dup
ENST00000540249.5:c.807-173_807-171dup	ENSP00000440761.1:n.807-173_807-171dup
ENST00000545074.5:c.921-173_921-171dup	ENSP00000438550.1:n.921-173_921-171dup
NM_000284.3:c.900-173_900-171dup	NP_000275.1:n.900-173_900-171dup
NM_001173454.1:c.1014-173_1014-171dup	NP_001166925.1:n.1014-173_1014-171dup
NM_001173455.1:c.921-173_921-171dup	NP_001166926.1:n.921-173_921-171dup
NM_001173456.1:c.807-173_807-171dup	NP_001166927.1:n.807-173_807-171dup
XM_011545531.1:c.1035-173_1035-171dup	XP_011543833.1:n.1035-173_1035-171dup
XM_011545532.1:c.942-173_942-171dup	XP_011543834.1:n.942-173_942-171dup
XM_017029574.2:c.921-173_921-171dup	XP_016885063.1:n.921-173_921-171dup
NM_000284.4:c.900-173_900-171dup MANE Select	NP_000275.1:n.900-173_900-171dup
NM_001173454.2:c.1014-173_1014-171dup	NP_001166925.1:n.1014-173_1014-171dup
NM_001173455.2:c.921-173_921-171dup	NP_001166926.1:n.921-173_921-171dup
NM_001173456.2:c.807-173_807-171dup	NP_001166927.1:n.807-173_807-171dup