Canonical Allele Identifier: CA515486445

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377679T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359561T>C , CM000685.2:g.19359561T>C	GRCh38
NC_000023.10:g.19377679T>C , CM000685.1:g.19377679T>C	GRCh37
NC_000023.9:g.19287600T>C	NCBI36
NG_016781.1:g.20669T>C
NG_021184.1:g.160701A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1102T>C	ENSP00000348062.6:p.Leu368=
ENST00000379805.4:c.*773T>C	ENSP00000369133.3:n.*773T>C
ENST00000417819.6:c.1165T>C	ENSP00000404616.2:p.Leu389=
ENST00000423505.6:c.1195T>C	ENSP00000406473.2:p.Leu399=
ENST00000481733.2:n.876T>C
ENST00000696704.1:c.*413T>C	ENSP00000512823.1:n.*413T>C
ENST00000696705.1:c.*536T>C	ENSP00000512824.1:n.*536T>C
ENST00000422285.7:c.1081T>C MANE Select	ENSP00000394382.2:p.Leu361=
ENST00000379804.1:c.238T>C	ENSP00000369132.1:p.Leu80=
ENST00000379806.9:c.1195T>C	ENSP00000369134.5:p.Leu399=
ENST00000422285.6:c.1081T>C	ENSP00000394382.2:p.Leu361=
ENST00000478795.1:n.520T>C
ENST00000540249.5:c.988T>C	ENSP00000440761.1:p.Leu330=
ENST00000545074.5:c.1102T>C	ENSP00000438550.1:p.Leu368=
NM_000284.3:c.1081T>C	NP_000275.1:p.Leu361=
NM_001173454.1:c.1195T>C	NP_001166925.1:p.Leu399=
NM_001173455.1:c.1102T>C	NP_001166926.1:p.Leu368=
NM_001173456.1:c.988T>C	NP_001166927.1:p.Leu330=
XM_011545531.1:c.1216T>C	XP_011543833.1:p.Leu406=
XM_011545532.1:c.1123T>C	XP_011543834.1:p.Leu375=
XM_017029574.2:c.1102T>C	XP_016885063.1:p.Leu368=
NM_000284.4:c.1081T>C MANE Select	NP_000275.1:p.Leu361=
NM_001173454.2:c.1195T>C	NP_001166925.1:p.Leu399=
NM_001173455.2:c.1102T>C	NP_001166926.1:p.Leu368=
NM_001173456.2:c.988T>C	NP_001166927.1:p.Leu330=