Canonical Allele Identifier: CA412394696

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373620A>T (hg19) ; chrX:g.19355502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355502A>T , CM000685.2:g.19355502A>T	GRCh38
NC_000023.10:g.19373620A>T , CM000685.1:g.19373620A>T	GRCh37
NC_000023.9:g.19283541A>T	NCBI36
NG_016781.1:g.16610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.778A>T	ENSP00000348062.6:p.Arg260Ter
ENST00000379805.4:c.*449A>T	ENSP00000369133.3:n.*449A>T
ENST00000417819.6:c.841A>T	ENSP00000404616.2:p.Arg281Ter
ENST00000423505.6:c.871A>T	ENSP00000406473.2:p.Arg291Ter
ENST00000481733.2:n.552A>T
ENST00000696704.1:c.*89A>T	ENSP00000512823.1:n.*89A>T
ENST00000696705.1:c.*212A>T	ENSP00000512824.1:n.*212A>T
ENST00000422285.7:c.757A>T MANE Select	ENSP00000394382.2:p.Arg253Ter
ENST00000379806.9:c.871A>T	ENSP00000369134.5:p.Arg291Ter
ENST00000422285.6:c.757A>T	ENSP00000394382.2:p.Arg253Ter
ENST00000481733.1:n.185A>T
ENST00000540249.5:c.664A>T	ENSP00000440761.1:p.Arg222Ter
ENST00000545074.5:c.778A>T	ENSP00000438550.1:p.Arg260Ter
NM_000284.3:c.757A>T	NP_000275.1:p.Arg253Ter
NM_001173454.1:c.871A>T	NP_001166925.1:p.Arg291Ter
NM_001173455.1:c.778A>T	NP_001166926.1:p.Arg260Ter
NM_001173456.1:c.664A>T	NP_001166927.1:p.Arg222Ter
XM_011545531.1:c.892A>T	XP_011543833.1:p.Arg298Ter
XM_011545532.1:c.799A>T	XP_011543834.1:p.Arg267Ter
XM_017029574.2:c.778A>T	XP_016885063.1:p.Arg260Ter
NM_000284.4:c.757A>T MANE Select	NP_000275.1:p.Arg253Ter
NM_001173454.2:c.871A>T	NP_001166925.1:p.Arg291Ter
NM_001173455.2:c.778A>T	NP_001166926.1:p.Arg260Ter
NM_001173456.2:c.664A>T	NP_001166927.1:p.Arg222Ter