Canonical Allele Identifier: CA412397194

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2663947
• ClinVar RCV Id: RCV003444409
• MyVariant Identifiers: chrX:g.19377741T>G (hg19) ; chrX:g.19359623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359623T>G , CM000685.2:g.19359623T>G	GRCh38
NC_000023.10:g.19377741T>G , CM000685.1:g.19377741T>G	GRCh37
NC_000023.9:g.19287662T>G	NCBI36
NG_016781.1:g.20731T>G
NG_021184.1:g.160639A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1164T>G	ENSP00000348062.6:p.Asn388Lys
ENST00000379805.4:c.*835T>G	ENSP00000369133.3:n.*835T>G
ENST00000417819.6:c.1227T>G	ENSP00000404616.2:p.Asn409Lys
ENST00000423505.6:c.1257T>G	ENSP00000406473.2:p.Asn419Lys
ENST00000481733.2:n.938T>G
ENST00000696704.1:c.*475T>G	ENSP00000512823.1:n.*475T>G
ENST00000696705.1:c.*598T>G	ENSP00000512824.1:n.*598T>G
ENST00000422285.7:c.1143T>G MANE Select	ENSP00000394382.2:p.Asn381Lys
ENST00000379804.1:c.300T>G	ENSP00000369132.1:p.Asn100Lys
ENST00000379806.9:c.1257T>G	ENSP00000369134.5:p.Asn419Lys
ENST00000422285.6:c.1143T>G	ENSP00000394382.2:p.Asn381Lys
ENST00000478795.1:n.582T>G
ENST00000540249.5:c.1050T>G	ENSP00000440761.1:p.Asn350Lys
ENST00000545074.5:c.1164T>G	ENSP00000438550.1:p.Asn388Lys
NM_000284.3:c.1143T>G	NP_000275.1:p.Asn381Lys
NM_001173454.1:c.1257T>G	NP_001166925.1:p.Asn419Lys
NM_001173455.1:c.1164T>G	NP_001166926.1:p.Asn388Lys
NM_001173456.1:c.1050T>G	NP_001166927.1:p.Asn350Lys
XM_011545531.1:c.1278T>G	XP_011543833.1:p.Asn426Lys
XM_011545532.1:c.1185T>G	XP_011543834.1:p.Asn395Lys
XM_017029574.2:c.1164T>G	XP_016885063.1:p.Asn388Lys
NM_000284.4:c.1143T>G MANE Select	NP_000275.1:p.Asn381Lys
NM_001173454.2:c.1257T>G	NP_001166925.1:p.Asn419Lys
NM_001173455.2:c.1164T>G	NP_001166926.1:p.Asn388Lys
NM_001173456.2:c.1050T>G	NP_001166927.1:p.Asn350Lys