Canonical Allele Identifier: CA412394683

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 637039
• ClinVar RCV Id: RCV000789029
• dbSNP Id: rs1602227679
• MyVariant Identifiers: chrX:g.19373612C>T (hg19) ; chrX:g.19355494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355494C>T , CM000685.2:g.19355494C>T	GRCh38
NC_000023.10:g.19373612C>T , CM000685.1:g.19373612C>T	GRCh37
NC_000023.9:g.19283533C>T	NCBI36
NG_016781.1:g.16602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.770C>T	ENSP00000348062.6:p.Pro257Leu
ENST00000379805.4:c.*441C>T	ENSP00000369133.3:n.*441C>T
ENST00000417819.6:c.833C>T	ENSP00000404616.2:p.Pro278Leu
ENST00000423505.6:c.863C>T	ENSP00000406473.2:p.Pro288Leu
ENST00000481733.2:n.544C>T
ENST00000696704.1:c.*81C>T	ENSP00000512823.1:n.*81C>T
ENST00000696705.1:c.*204C>T	ENSP00000512824.1:n.*204C>T
ENST00000422285.7:c.749C>T MANE Select	ENSP00000394382.2:p.Pro250Leu
ENST00000379806.9:c.863C>T	ENSP00000369134.5:p.Pro288Leu
ENST00000422285.6:c.749C>T	ENSP00000394382.2:p.Pro250Leu
ENST00000481733.1:n.177C>T
ENST00000540249.5:c.656C>T	ENSP00000440761.1:p.Pro219Leu
ENST00000545074.5:c.770C>T	ENSP00000438550.1:p.Pro257Leu
NM_000284.3:c.749C>T	NP_000275.1:p.Pro250Leu
NM_001173454.1:c.863C>T	NP_001166925.1:p.Pro288Leu
NM_001173455.1:c.770C>T	NP_001166926.1:p.Pro257Leu
NM_001173456.1:c.656C>T	NP_001166927.1:p.Pro219Leu
XM_011545531.1:c.884C>T	XP_011543833.1:p.Pro295Leu
XM_011545532.1:c.791C>T	XP_011543834.1:p.Pro264Leu
XM_017029574.2:c.770C>T	XP_016885063.1:p.Pro257Leu
NM_000284.4:c.749C>T MANE Select	NP_000275.1:p.Pro250Leu
NM_001173454.2:c.863C>T	NP_001166925.1:p.Pro288Leu
NM_001173455.2:c.770C>T	NP_001166926.1:p.Pro257Leu
NM_001173456.2:c.656C>T	NP_001166927.1:p.Pro219Leu