Canonical Allele Identifier: CA412394536

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1324869
• ClinVar RCV Id: RCV001782589
• dbSNP Id: rs2147180851
• MyVariant Identifiers: chrX:g.19373548A>T (hg19) ; chrX:g.19355430A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355430A>T , CM000685.2:g.19355430A>T	GRCh38
NC_000023.10:g.19373548A>T , CM000685.1:g.19373548A>T	GRCh37
NC_000023.9:g.19283469A>T	NCBI36
NG_016781.1:g.16538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.706A>T	ENSP00000348062.6:p.Met236Leu
ENST00000379805.4:c.*377A>T	ENSP00000369133.3:n.*377A>T
ENST00000417819.6:c.769A>T	ENSP00000404616.2:p.Met257Leu
ENST00000423505.6:c.799A>T	ENSP00000406473.2:p.Met267Leu
ENST00000481733.2:n.480A>T
ENST00000696704.1:c.*17A>T	ENSP00000512823.1:n.*17A>T
ENST00000696705.1:c.*140A>T	ENSP00000512824.1:n.*140A>T
ENST00000422285.7:c.685A>T MANE Select	ENSP00000394382.2:p.Met229Leu
ENST00000379806.9:c.799A>T	ENSP00000369134.5:p.Met267Leu
ENST00000422285.6:c.685A>T	ENSP00000394382.2:p.Met229Leu
ENST00000479146.1:n.520A>T
ENST00000481733.1:n.113A>T
ENST00000540249.5:c.592A>T	ENSP00000440761.1:p.Met198Leu
ENST00000545074.5:c.706A>T	ENSP00000438550.1:p.Met236Leu
NM_000284.3:c.685A>T	NP_000275.1:p.Met229Leu
NM_001173454.1:c.799A>T	NP_001166925.1:p.Met267Leu
NM_001173455.1:c.706A>T	NP_001166926.1:p.Met236Leu
NM_001173456.1:c.592A>T	NP_001166927.1:p.Met198Leu
XM_011545531.1:c.820A>T	XP_011543833.1:p.Met274Leu
XM_011545532.1:c.727A>T	XP_011543834.1:p.Met243Leu
XM_017029574.2:c.706A>T	XP_016885063.1:p.Met236Leu
NM_000284.4:c.685A>T MANE Select	NP_000275.1:p.Met229Leu
NM_001173454.2:c.799A>T	NP_001166925.1:p.Met267Leu
NM_001173455.2:c.706A>T	NP_001166926.1:p.Met236Leu
NM_001173456.2:c.592A>T	NP_001166927.1:p.Met198Leu