Canonical Allele Identifier: CA412390982

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 3063875
• ClinVar RCV Id: RCV003988463
• gnomAD v4: X-19351317-C-G
• MyVariant Identifiers: chrX:g.19369435C>G (hg19) ; chrX:g.19351317C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351317C>G , CM000685.2:g.19351317C>G	GRCh38
NC_000023.10:g.19369435C>G , CM000685.1:g.19369435C>G	GRCh37
NC_000023.9:g.19279356C>G	NCBI36
NG_016781.1:g.12425C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.349C>G	ENSP00000348062.6:p.Pro117Ala
ENST00000379805.4:c.328C>G	ENSP00000369133.3:p.Pro110Ala
ENST00000417819.6:c.412C>G	ENSP00000404616.2:p.Pro138Ala
ENST00000423505.6:c.442C>G	ENSP00000406473.2:p.Pro148Ala
ENST00000696704.1:c.328C>G	ENSP00000512823.1:p.Pro110Ala
ENST00000696705.1:c.328C>G	ENSP00000512824.1:p.Pro110Ala
ENST00000422285.7:c.328C>G MANE Select	ENSP00000394382.2:p.Pro110Ala
ENST00000355808.9:c.349C>G	ENSP00000348062.5:p.Pro117Ala
ENST00000379805.3:c.328C>G	ENSP00000369133.3:p.Pro110Ala
ENST00000379806.9:c.442C>G	ENSP00000369134.5:p.Pro148Ala
ENST00000422285.6:c.328C>G	ENSP00000394382.2:p.Pro110Ala
ENST00000423505.5:c.442C>G	ENSP00000406473.1:p.Pro148Ala
ENST00000492364.1:n.430C>G
ENST00000540249.5:c.328C>G	ENSP00000440761.1:p.Pro110Ala
ENST00000545074.5:c.349C>G	ENSP00000438550.1:p.Pro117Ala
NM_000284.3:c.328C>G	NP_000275.1:p.Pro110Ala
NM_001173454.1:c.442C>G	NP_001166925.1:p.Pro148Ala
NM_001173455.1:c.349C>G	NP_001166926.1:p.Pro117Ala
NM_001173456.1:c.328C>G	NP_001166927.1:p.Pro110Ala
XM_011545531.1:c.463C>G	XP_011543833.1:p.Pro155Ala
XM_011545532.1:c.463C>G	XP_011543834.1:p.Pro155Ala
XM_017029574.2:c.442C>G	XP_016885063.1:p.Pro148Ala
NM_000284.4:c.328C>G MANE Select	NP_000275.1:p.Pro110Ala
NM_001173454.2:c.442C>G	NP_001166925.1:p.Pro148Ala
NM_001173455.2:c.349C>G	NP_001166926.1:p.Pro117Ala
NM_001173456.2:c.328C>G	NP_001166927.1:p.Pro110Ala