Canonical Allele Identifier: CA412396226

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377107G>T (hg19) ; chrX:g.19358989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358989G>T , CM000685.2:g.19358989G>T	GRCh38
NC_000023.10:g.19377107G>T , CM000685.1:g.19377107G>T	GRCh37
NC_000023.9:g.19287028G>T	NCBI36
NG_016781.1:g.20097G>T
NG_021184.1:g.161273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.994G>T	ENSP00000348062.6:p.Val332Leu
ENST00000379805.4:c.*665G>T	ENSP00000369133.3:n.*665G>T
ENST00000417819.6:c.1057G>T	ENSP00000404616.2:p.Val353Leu
ENST00000423505.6:c.1087G>T	ENSP00000406473.2:p.Val363Leu
ENST00000481733.2:n.768G>T
ENST00000696704.1:c.*305G>T	ENSP00000512823.1:n.*305G>T
ENST00000696705.1:c.*428G>T	ENSP00000512824.1:n.*428G>T
ENST00000422285.7:c.973G>T MANE Select	ENSP00000394382.2:p.Val325Leu
ENST00000379804.1:c.130G>T	ENSP00000369132.1:p.Val44Leu
ENST00000379806.9:c.1087G>T	ENSP00000369134.5:p.Val363Leu
ENST00000422285.6:c.973G>T	ENSP00000394382.2:p.Val325Leu
ENST00000478795.1:n.412G>T
ENST00000481733.1:n.401G>T
ENST00000540249.5:c.880G>T	ENSP00000440761.1:p.Val294Leu
ENST00000545074.5:c.994G>T	ENSP00000438550.1:p.Val332Leu
NM_000284.3:c.973G>T	NP_000275.1:p.Val325Leu
NM_001173454.1:c.1087G>T	NP_001166925.1:p.Val363Leu
NM_001173455.1:c.994G>T	NP_001166926.1:p.Val332Leu
NM_001173456.1:c.880G>T	NP_001166927.1:p.Val294Leu
XM_011545531.1:c.1108G>T	XP_011543833.1:p.Val370Leu
XM_011545532.1:c.1015G>T	XP_011543834.1:p.Val339Leu
XM_017029574.2:c.994G>T	XP_016885063.1:p.Val332Leu
NM_000284.4:c.973G>T MANE Select	NP_000275.1:p.Val325Leu
NM_001173454.2:c.1087G>T	NP_001166925.1:p.Val363Leu
NM_001173455.2:c.994G>T	NP_001166926.1:p.Val332Leu
NM_001173456.2:c.880G>T	NP_001166927.1:p.Val294Leu