Canonical Allele Identifier: CA325044

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214937
• ClinVar RCV Id: RCV000200467 ; RCV001079335 ; RCV002363013
• dbSNP Id: rs201156613
• ExAC: X:19377757 A / C
• gnomAD v2: X-19377757-A-C
• gnomAD v3: X-19359639-A-C
• gnomAD v4: X-19359639-A-C
• MyVariant Identifiers: chrX:g.19377757A>C (hg19) ; chrX:g.19377757_19377761delinsCAGTC (hg19) ; chrX:g.19359639A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359639A>C , CM000685.2:g.19359639A>C	GRCh38
NC_000023.10:g.19377757A>C , CM000685.1:g.19377757A>C	GRCh37
NC_000023.9:g.19287678A>C	NCBI36
NG_016781.1:g.20747A>C
NG_021184.1:g.160623T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1180A>C	ENSP00000348062.6:p.Lys394Gln
ENST00000379805.4:c.*851A>C	ENSP00000369133.3:n.*851A>C
ENST00000417819.6:c.1243A>C	ENSP00000404616.2:p.Lys415Gln
ENST00000423505.6:c.1273A>C	ENSP00000406473.2:p.Lys425Gln
ENST00000481733.2:n.954A>C
ENST00000696704.1:c.*491A>C	ENSP00000512823.1:n.*491A>C
ENST00000696705.1:c.*614A>C	ENSP00000512824.1:n.*614A>C
ENST00000422285.7:c.1159A>C MANE Select	ENSP00000394382.2:p.Lys387Gln
ENST00000379804.1:c.316A>C	ENSP00000369132.1:p.Lys106Gln
ENST00000379806.9:c.1273A>C	ENSP00000369134.5:p.Lys425Gln
ENST00000422285.6:c.1159A>C	ENSP00000394382.2:p.Lys387Gln
ENST00000478795.1:n.598A>C
ENST00000540249.5:c.1066A>C	ENSP00000440761.1:p.Lys356Gln
ENST00000545074.5:c.1180A>C	ENSP00000438550.1:p.Lys394Gln
NM_000284.3:c.1159A>C	NP_000275.1:p.Lys387Gln
NM_001173454.1:c.1273A>C	NP_001166925.1:p.Lys425Gln
NM_001173455.1:c.1180A>C	NP_001166926.1:p.Lys394Gln
NM_001173456.1:c.1066A>C	NP_001166927.1:p.Lys356Gln
XM_011545531.1:c.1294A>C	XP_011543833.1:p.Lys432Gln
XM_011545532.1:c.1201A>C	XP_011543834.1:p.Lys401Gln
XM_017029574.2:c.1180A>C	XP_016885063.1:p.Lys394Gln
NM_000284.4:c.1159A>C MANE Select	NP_000275.1:p.Lys387Gln
NM_001173454.2:c.1273A>C	NP_001166925.1:p.Lys425Gln
NM_001173455.2:c.1180A>C	NP_001166926.1:p.Lys394Gln
NM_001173456.2:c.1066A>C	NP_001166927.1:p.Lys356Gln