Canonical Allele Identifier: CA327027173

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1649816
• ClinVar RCV Id: RCV002146590
• dbSNP Id: rs929262350
• gnomAD v3: X-19355408-C-T
• gnomAD v4: X-19355408-C-T
• MyVariant Identifiers: chrX:g.19373526C>T (hg19) ; chrX:g.19355408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355408C>T , CM000685.2:g.19355408C>T	GRCh38
NC_000023.10:g.19373526C>T , CM000685.1:g.19373526C>T	GRCh37
NC_000023.9:g.19283447C>T	NCBI36
NG_016781.1:g.16516C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.684C>T	ENSP00000348062.6:p.Ile228=
ENST00000379805.4:c.*355C>T	ENSP00000369133.3:n.*355C>T
ENST00000417819.6:c.747C>T	ENSP00000404616.2:p.Ile249=
ENST00000423505.6:c.777C>T	ENSP00000406473.2:p.Ile259=
ENST00000481733.2:n.458C>T
ENST00000696704.1:c.478C>T	ENSP00000512823.1:p.Leu160=
ENST00000696705.1:c.*118C>T	ENSP00000512824.1:n.*118C>T
ENST00000422285.7:c.663C>T MANE Select	ENSP00000394382.2:p.Ile221=
ENST00000379806.9:c.777C>T	ENSP00000369134.5:p.Ile259=
ENST00000422285.6:c.663C>T	ENSP00000394382.2:p.Ile221=
ENST00000479146.1:n.498C>T
ENST00000481733.1:n.91C>T
ENST00000540249.5:c.570C>T	ENSP00000440761.1:p.Ile190=
ENST00000545074.5:c.684C>T	ENSP00000438550.1:p.Ile228=
NM_000284.3:c.663C>T	NP_000275.1:p.Ile221=
NM_001173454.1:c.777C>T	NP_001166925.1:p.Ile259=
NM_001173455.1:c.684C>T	NP_001166926.1:p.Ile228=
NM_001173456.1:c.570C>T	NP_001166927.1:p.Ile190=
XM_011545531.1:c.798C>T	XP_011543833.1:p.Ile266=
XM_011545532.1:c.705C>T	XP_011543834.1:p.Ile235=
XM_017029574.2:c.684C>T	XP_016885063.1:p.Ile228=
NM_000284.4:c.663C>T MANE Select	NP_000275.1:p.Ile221=
NM_001173454.2:c.777C>T	NP_001166925.1:p.Ile259=
NM_001173455.2:c.684C>T	NP_001166926.1:p.Ile228=
NM_001173456.2:c.570C>T	NP_001166927.1:p.Ile190=