Canonical Allele Identifier: CA412394661

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373603A>T (hg19) ; chrX:g.19355485A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355485A>T , CM000685.2:g.19355485A>T	GRCh38
NC_000023.10:g.19373603A>T , CM000685.1:g.19373603A>T	GRCh37
NC_000023.9:g.19283524A>T	NCBI36
NG_016781.1:g.16593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.761A>T	ENSP00000348062.6:p.Asp254Val
ENST00000379805.4:c.*432A>T	ENSP00000369133.3:n.*432A>T
ENST00000417819.6:c.824A>T	ENSP00000404616.2:p.Asp275Val
ENST00000423505.6:c.854A>T	ENSP00000406473.2:p.Asp285Val
ENST00000481733.2:n.535A>T
ENST00000696704.1:c.*72A>T	ENSP00000512823.1:n.*72A>T
ENST00000696705.1:c.*195A>T	ENSP00000512824.1:n.*195A>T
ENST00000422285.7:c.740A>T MANE Select	ENSP00000394382.2:p.Asp247Val
ENST00000379806.9:c.854A>T	ENSP00000369134.5:p.Asp285Val
ENST00000422285.6:c.740A>T	ENSP00000394382.2:p.Asp247Val
ENST00000481733.1:n.168A>T
ENST00000540249.5:c.647A>T	ENSP00000440761.1:p.Asp216Val
ENST00000545074.5:c.761A>T	ENSP00000438550.1:p.Asp254Val
NM_000284.3:c.740A>T	NP_000275.1:p.Asp247Val
NM_001173454.1:c.854A>T	NP_001166925.1:p.Asp285Val
NM_001173455.1:c.761A>T	NP_001166926.1:p.Asp254Val
NM_001173456.1:c.647A>T	NP_001166927.1:p.Asp216Val
XM_011545531.1:c.875A>T	XP_011543833.1:p.Asp292Val
XM_011545532.1:c.782A>T	XP_011543834.1:p.Asp261Val
XM_017029574.2:c.761A>T	XP_016885063.1:p.Asp254Val
NM_000284.4:c.740A>T MANE Select	NP_000275.1:p.Asp247Val
NM_001173454.2:c.854A>T	NP_001166925.1:p.Asp285Val
NM_001173455.2:c.761A>T	NP_001166926.1:p.Asp254Val
NM_001173456.2:c.647A>T	NP_001166927.1:p.Asp216Val