Canonical Allele Identifier: CA412394755

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373822C>G (hg19) ; chrX:g.19355704C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355704C>G , CM000685.2:g.19355704C>G	GRCh38
NC_000023.10:g.19373822C>G , CM000685.1:g.19373822C>G	GRCh37
NC_000023.9:g.19283743C>G	NCBI36
NG_016781.1:g.16812C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.799C>G	ENSP00000348062.6:p.Leu267Val
ENST00000379805.4:c.*470C>G	ENSP00000369133.3:n.*470C>G
ENST00000417819.6:c.862C>G	ENSP00000404616.2:p.Leu288Val
ENST00000423505.6:c.892C>G	ENSP00000406473.2:p.Leu298Val
ENST00000481733.2:n.573C>G
ENST00000696704.1:c.*110C>G	ENSP00000512823.1:n.*110C>G
ENST00000696705.1:c.*233C>G	ENSP00000512824.1:n.*233C>G
ENST00000422285.7:c.778C>G MANE Select	ENSP00000394382.2:p.Leu260Val
ENST00000379804.1:c.-66C>G	ENSP00000369132.1:n.-66C>G
ENST00000379806.9:c.892C>G	ENSP00000369134.5:p.Leu298Val
ENST00000422285.6:c.778C>G	ENSP00000394382.2:p.Leu260Val
ENST00000481733.1:n.206C>G
ENST00000540249.5:c.685C>G	ENSP00000440761.1:p.Leu229Val
ENST00000545074.5:c.799C>G	ENSP00000438550.1:p.Leu267Val
NM_000284.3:c.778C>G	NP_000275.1:p.Leu260Val
NM_001173454.1:c.892C>G	NP_001166925.1:p.Leu298Val
NM_001173455.1:c.799C>G	NP_001166926.1:p.Leu267Val
NM_001173456.1:c.685C>G	NP_001166927.1:p.Leu229Val
XM_011545531.1:c.913C>G	XP_011543833.1:p.Leu305Val
XM_011545532.1:c.820C>G	XP_011543834.1:p.Leu274Val
XM_017029574.2:c.799C>G	XP_016885063.1:p.Leu267Val
NM_000284.4:c.778C>G MANE Select	NP_000275.1:p.Leu260Val
NM_001173454.2:c.892C>G	NP_001166925.1:p.Leu298Val
NM_001173455.2:c.799C>G	NP_001166926.1:p.Leu267Val
NM_001173456.2:c.685C>G	NP_001166927.1:p.Leu229Val