Canonical Allele Identifier: CA515486495

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359647-C-T
• MyVariant Identifiers: chrX:g.19377765C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359647C>T , CM000685.2:g.19359647C>T	GRCh38
NC_000023.10:g.19377765C>T , CM000685.1:g.19377765C>T	GRCh37
NC_000023.9:g.19287686C>T	NCBI36
NG_016781.1:g.20755C>T
NG_021184.1:g.160615G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1188C>T	ENSP00000348062.6:p.Val396=
ENST00000379805.4:c.*859C>T	ENSP00000369133.3:n.*859C>T
ENST00000417819.6:c.1251C>T	ENSP00000404616.2:p.Val417=
ENST00000423505.6:c.1281C>T	ENSP00000406473.2:p.Val427=
ENST00000481733.2:n.962C>T
ENST00000696704.1:c.*499C>T	ENSP00000512823.1:n.*499C>T
ENST00000696705.1:c.*622C>T	ENSP00000512824.1:n.*622C>T
ENST00000422285.7:c.1167C>T MANE Select	ENSP00000394382.2:p.Val389=
ENST00000379804.1:c.324C>T	ENSP00000369132.1:p.Val108=
ENST00000379806.9:c.1281C>T	ENSP00000369134.5:p.Val427=
ENST00000422285.6:c.1167C>T	ENSP00000394382.2:p.Val389=
ENST00000478795.1:n.606C>T
ENST00000540249.5:c.1074C>T	ENSP00000440761.1:p.Val358=
ENST00000545074.5:c.1188C>T	ENSP00000438550.1:p.Val396=
NM_000284.3:c.1167C>T	NP_000275.1:p.Val389=
NM_001173454.1:c.1281C>T	NP_001166925.1:p.Val427=
NM_001173455.1:c.1188C>T	NP_001166926.1:p.Val396=
NM_001173456.1:c.1074C>T	NP_001166927.1:p.Val358=
XM_011545531.1:c.1302C>T	XP_011543833.1:p.Val434=
XM_011545532.1:c.1209C>T	XP_011543834.1:p.Val403=
XM_017029574.2:c.1188C>T	XP_016885063.1:p.Val396=
NM_000284.4:c.1167C>T MANE Select	NP_000275.1:p.Val389=
NM_001173454.2:c.1281C>T	NP_001166925.1:p.Val427=
NM_001173455.2:c.1188C>T	NP_001166926.1:p.Val396=
NM_001173456.2:c.1074C>T	NP_001166927.1:p.Val358=