Canonical Allele Identifier: CA515486281

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358925-A-G
• MyVariant Identifiers: chrX:g.19377043A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358925A>G , CM000685.2:g.19358925A>G	GRCh38
NC_000023.10:g.19377043A>G , CM000685.1:g.19377043A>G	GRCh37
NC_000023.9:g.19286964A>G	NCBI36
NG_016781.1:g.20033A>G
NG_021184.1:g.161337T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.930A>G	ENSP00000348062.6:p.Thr310=
ENST00000379805.4:c.*601A>G	ENSP00000369133.3:n.*601A>G
ENST00000417819.6:c.993A>G	ENSP00000404616.2:p.Thr331=
ENST00000423505.6:c.1023A>G	ENSP00000406473.2:p.Thr341=
ENST00000481733.2:n.704A>G
ENST00000696704.1:c.*241A>G	ENSP00000512823.1:n.*241A>G
ENST00000696705.1:c.*364A>G	ENSP00000512824.1:n.*364A>G
ENST00000422285.7:c.909A>G MANE Select	ENSP00000394382.2:p.Thr303=
ENST00000379804.1:c.66A>G	ENSP00000369132.1:p.Thr22=
ENST00000379806.9:c.1023A>G	ENSP00000369134.5:p.Thr341=
ENST00000422285.6:c.909A>G	ENSP00000394382.2:p.Thr303=
ENST00000478795.1:n.348A>G
ENST00000481733.1:n.337A>G
ENST00000540249.5:c.816A>G	ENSP00000440761.1:p.Thr272=
ENST00000545074.5:c.930A>G	ENSP00000438550.1:p.Thr310=
NM_000284.3:c.909A>G	NP_000275.1:p.Thr303=
NM_001173454.1:c.1023A>G	NP_001166925.1:p.Thr341=
NM_001173455.1:c.930A>G	NP_001166926.1:p.Thr310=
NM_001173456.1:c.816A>G	NP_001166927.1:p.Thr272=
XM_011545531.1:c.1044A>G	XP_011543833.1:p.Thr348=
XM_011545532.1:c.951A>G	XP_011543834.1:p.Thr317=
XM_017029574.2:c.930A>G	XP_016885063.1:p.Thr310=
NM_000284.4:c.909A>G MANE Select	NP_000275.1:p.Thr303=
NM_001173454.2:c.1023A>G	NP_001166925.1:p.Thr341=
NM_001173455.2:c.930A>G	NP_001166926.1:p.Thr310=
NM_001173456.2:c.816A>G	NP_001166927.1:p.Thr272=