Canonical Allele Identifier: CA412394556

Gene: PDHA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.715T>C	ENSP00000348062.6:p.Ser239Pro
ENST00000379805.4:c.*386T>C	ENSP00000369133.3:n.*386T>C
ENST00000417819.6:c.778T>C	ENSP00000404616.2:p.Ser260Pro
ENST00000423505.6:c.808T>C	ENSP00000406473.2:p.Ser270Pro
ENST00000481733.2:n.489T>C
ENST00000696704.1:c.*26T>C	ENSP00000512823.1:n.*26T>C
ENST00000696705.1:c.*149T>C	ENSP00000512824.1:n.*149T>C
ENST00000422285.7:c.694T>C MANE Select	ENSP00000394382.2:p.Ser232Pro
ENST00000379806.9:c.808T>C	ENSP00000369134.5:p.Ser270Pro
ENST00000422285.6:c.694T>C	ENSP00000394382.2:p.Ser232Pro
ENST00000479146.1:n.529T>C
ENST00000481733.1:n.122T>C
ENST00000540249.5:c.601T>C	ENSP00000440761.1:p.Ser201Pro
ENST00000545074.5:c.715T>C	ENSP00000438550.1:p.Ser239Pro
NM_000284.3:c.694T>C	NP_000275.1:p.Ser232Pro
NM_001173454.1:c.808T>C	NP_001166925.1:p.Ser270Pro
NM_001173455.1:c.715T>C	NP_001166926.1:p.Ser239Pro
NM_001173456.1:c.601T>C	NP_001166927.1:p.Ser201Pro
XM_011545531.1:c.829T>C	XP_011543833.1:p.Ser277Pro
XM_011545532.1:c.736T>C	XP_011543834.1:p.Ser246Pro
XM_017029574.2:c.715T>C	XP_016885063.1:p.Ser239Pro
NM_000284.4:c.694T>C MANE Select	NP_000275.1:p.Ser232Pro
NM_001173454.2:c.808T>C	NP_001166925.1:p.Ser270Pro
NM_001173455.2:c.715T>C	NP_001166926.1:p.Ser239Pro
NM_001173456.2:c.601T>C	NP_001166927.1:p.Ser201Pro