Canonical Allele Identifier: CA412395186

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375794A>G (hg19) ; chrX:g.19357676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357676A>G , CM000685.2:g.19357676A>G	GRCh38
NC_000023.10:g.19375794A>G , CM000685.1:g.19375794A>G	GRCh37
NC_000023.9:g.19285715A>G	NCBI36
NG_016781.1:g.18784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.877A>G	ENSP00000348062.6:p.Thr293Ala
ENST00000379805.4:c.*548A>G	ENSP00000369133.3:n.*548A>G
ENST00000417819.6:c.940A>G	ENSP00000404616.2:p.Thr314Ala
ENST00000423505.6:c.970A>G	ENSP00000406473.2:p.Thr324Ala
ENST00000481733.2:n.651A>G
ENST00000696704.1:c.*188A>G	ENSP00000512823.1:n.*188A>G
ENST00000696705.1:c.*311A>G	ENSP00000512824.1:n.*311A>G
ENST00000422285.7:c.856A>G MANE Select	ENSP00000394382.2:p.Thr286Ala
ENST00000379804.1:c.13A>G	ENSP00000369132.1:p.Thr5Ala
ENST00000379806.9:c.970A>G	ENSP00000369134.5:p.Thr324Ala
ENST00000422285.6:c.856A>G	ENSP00000394382.2:p.Thr286Ala
ENST00000478795.1:n.295A>G
ENST00000481733.1:n.284A>G
ENST00000540249.5:c.763A>G	ENSP00000440761.1:p.Thr255Ala
ENST00000545074.5:c.877A>G	ENSP00000438550.1:p.Thr293Ala
NM_000284.3:c.856A>G	NP_000275.1:p.Thr286Ala
NM_001173454.1:c.970A>G	NP_001166925.1:p.Thr324Ala
NM_001173455.1:c.877A>G	NP_001166926.1:p.Thr293Ala
NM_001173456.1:c.763A>G	NP_001166927.1:p.Thr255Ala
XM_011545531.1:c.991A>G	XP_011543833.1:p.Thr331Ala
XM_011545532.1:c.898A>G	XP_011543834.1:p.Thr300Ala
XM_017029574.2:c.877A>G	XP_016885063.1:p.Thr293Ala
NM_000284.4:c.856A>G MANE Select	NP_000275.1:p.Thr286Ala
NM_001173454.2:c.970A>G	NP_001166925.1:p.Thr324Ala
NM_001173455.2:c.877A>G	NP_001166926.1:p.Thr293Ala
NM_001173456.2:c.763A>G	NP_001166927.1:p.Thr255Ala