Canonical Allele Identifier: CA412394555

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373557T>A (hg19) ; chrX:g.19355439T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355439T>A , CM000685.2:g.19355439T>A	GRCh38
NC_000023.10:g.19373557T>A , CM000685.1:g.19373557T>A	GRCh37
NC_000023.9:g.19283478T>A	NCBI36
NG_016781.1:g.16547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.715T>A	ENSP00000348062.6:p.Ser239Thr
ENST00000379805.4:c.*386T>A	ENSP00000369133.3:n.*386T>A
ENST00000417819.6:c.778T>A	ENSP00000404616.2:p.Ser260Thr
ENST00000423505.6:c.808T>A	ENSP00000406473.2:p.Ser270Thr
ENST00000481733.2:n.489T>A
ENST00000696704.1:c.*26T>A	ENSP00000512823.1:n.*26T>A
ENST00000696705.1:c.*149T>A	ENSP00000512824.1:n.*149T>A
ENST00000422285.7:c.694T>A MANE Select	ENSP00000394382.2:p.Ser232Thr
ENST00000379806.9:c.808T>A	ENSP00000369134.5:p.Ser270Thr
ENST00000422285.6:c.694T>A	ENSP00000394382.2:p.Ser232Thr
ENST00000479146.1:n.529T>A
ENST00000481733.1:n.122T>A
ENST00000540249.5:c.601T>A	ENSP00000440761.1:p.Ser201Thr
ENST00000545074.5:c.715T>A	ENSP00000438550.1:p.Ser239Thr
NM_000284.3:c.694T>A	NP_000275.1:p.Ser232Thr
NM_001173454.1:c.808T>A	NP_001166925.1:p.Ser270Thr
NM_001173455.1:c.715T>A	NP_001166926.1:p.Ser239Thr
NM_001173456.1:c.601T>A	NP_001166927.1:p.Ser201Thr
XM_011545531.1:c.829T>A	XP_011543833.1:p.Ser277Thr
XM_011545532.1:c.736T>A	XP_011543834.1:p.Ser246Thr
XM_017029574.2:c.715T>A	XP_016885063.1:p.Ser239Thr
NM_000284.4:c.694T>A MANE Select	NP_000275.1:p.Ser232Thr
NM_001173454.2:c.808T>A	NP_001166925.1:p.Ser270Thr
NM_001173455.2:c.715T>A	NP_001166926.1:p.Ser239Thr
NM_001173456.2:c.601T>A	NP_001166927.1:p.Ser201Thr