Canonical Allele Identifier: CA412394732

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2584844
• ClinVar RCV Id: RCV003340744
• gnomAD v4: X-19355695-A-G
• MyVariant Identifiers: chrX:g.19373813A>G (hg19) ; chrX:g.19355695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355695A>G , CM000685.2:g.19355695A>G	GRCh38
NC_000023.10:g.19373813A>G , CM000685.1:g.19373813A>G	GRCh37
NC_000023.9:g.19283734A>G	NCBI36
NG_016781.1:g.16803A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.790A>G	ENSP00000348062.6:p.Met264Val
ENST00000379805.4:c.*461A>G	ENSP00000369133.3:n.*461A>G
ENST00000417819.6:c.853A>G	ENSP00000404616.2:p.Met285Val
ENST00000423505.6:c.883A>G	ENSP00000406473.2:p.Met295Val
ENST00000481733.2:n.564A>G
ENST00000696704.1:c.*101A>G	ENSP00000512823.1:n.*101A>G
ENST00000696705.1:c.*224A>G	ENSP00000512824.1:n.*224A>G
ENST00000422285.7:c.769A>G MANE Select	ENSP00000394382.2:p.Met257Val
ENST00000379804.1:c.-75A>G	ENSP00000369132.1:n.-75A>G
ENST00000379806.9:c.883A>G	ENSP00000369134.5:p.Met295Val
ENST00000422285.6:c.769A>G	ENSP00000394382.2:p.Met257Val
ENST00000481733.1:n.197A>G
ENST00000540249.5:c.676A>G	ENSP00000440761.1:p.Met226Val
ENST00000545074.5:c.790A>G	ENSP00000438550.1:p.Met264Val
NM_000284.3:c.769A>G	NP_000275.1:p.Met257Val
NM_001173454.1:c.883A>G	NP_001166925.1:p.Met295Val
NM_001173455.1:c.790A>G	NP_001166926.1:p.Met264Val
NM_001173456.1:c.676A>G	NP_001166927.1:p.Met226Val
XM_011545531.1:c.904A>G	XP_011543833.1:p.Met302Val
XM_011545532.1:c.811A>G	XP_011543834.1:p.Met271Val
XM_017029574.2:c.790A>G	XP_016885063.1:p.Met264Val
NM_000284.4:c.769A>G MANE Select	NP_000275.1:p.Met257Val
NM_001173454.2:c.883A>G	NP_001166925.1:p.Met295Val
NM_001173455.2:c.790A>G	NP_001166926.1:p.Met264Val
NM_001173456.2:c.676A>G	NP_001166927.1:p.Met226Val