Canonical Allele Identifier: CA515486029

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1118776
• ClinVar RCV Id: RCV001448030
• dbSNP Id: rs138237215
• gnomAD v3: X-19355438-G-T
• gnomAD v4: X-19355438-G-T
• MyVariant Identifiers: chrX:g.19373556G>T (hg19) ; chrX:g.19355438G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355438G>T , CM000685.2:g.19355438G>T	GRCh38
NC_000023.10:g.19373556G>T , CM000685.1:g.19373556G>T	GRCh37
NC_000023.9:g.19283477G>T	NCBI36
NG_016781.1:g.16546G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.714G>T	ENSP00000348062.6:p.Thr238=
ENST00000379805.4:c.*385G>T	ENSP00000369133.3:n.*385G>T
ENST00000417819.6:c.777G>T	ENSP00000404616.2:p.Thr259=
ENST00000423505.6:c.807G>T	ENSP00000406473.2:p.Thr269=
ENST00000481733.2:n.488G>T
ENST00000696704.1:c.*25G>T	ENSP00000512823.1:n.*25G>T
ENST00000696705.1:c.*148G>T	ENSP00000512824.1:n.*148G>T
ENST00000422285.7:c.693G>T MANE Select	ENSP00000394382.2:p.Thr231=
ENST00000379806.9:c.807G>T	ENSP00000369134.5:p.Thr269=
ENST00000422285.6:c.693G>T	ENSP00000394382.2:p.Thr231=
ENST00000479146.1:n.528G>T
ENST00000481733.1:n.121G>T
ENST00000540249.5:c.600G>T	ENSP00000440761.1:p.Thr200=
ENST00000545074.5:c.714G>T	ENSP00000438550.1:p.Thr238=
NM_000284.3:c.693G>T	NP_000275.1:p.Thr231=
NM_001173454.1:c.807G>T	NP_001166925.1:p.Thr269=
NM_001173455.1:c.714G>T	NP_001166926.1:p.Thr238=
NM_001173456.1:c.600G>T	NP_001166927.1:p.Thr200=
XM_011545531.1:c.828G>T	XP_011543833.1:p.Thr276=
XM_011545532.1:c.735G>T	XP_011543834.1:p.Thr245=
XM_017029574.2:c.714G>T	XP_016885063.1:p.Thr238=
NM_000284.4:c.693G>T MANE Select	NP_000275.1:p.Thr231=
NM_001173454.2:c.807G>T	NP_001166925.1:p.Thr269=
NM_001173455.2:c.714G>T	NP_001166926.1:p.Thr238=
NM_001173456.2:c.600G>T	NP_001166927.1:p.Thr200=