Canonical Allele Identifier: CA412396234

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377111A>T (hg19) ; chrX:g.19358993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358993A>T , CM000685.2:g.19358993A>T	GRCh38
NC_000023.10:g.19377111A>T , CM000685.1:g.19377111A>T	GRCh37
NC_000023.9:g.19287032A>T	NCBI36
NG_016781.1:g.20101A>T
NG_021184.1:g.161269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.998A>T	ENSP00000348062.6:p.Asn333Ile
ENST00000379805.4:c.*669A>T	ENSP00000369133.3:n.*669A>T
ENST00000417819.6:c.1061A>T	ENSP00000404616.2:p.Asn354Ile
ENST00000423505.6:c.1091A>T	ENSP00000406473.2:p.Asn364Ile
ENST00000481733.2:n.772A>T
ENST00000696704.1:c.*309A>T	ENSP00000512823.1:n.*309A>T
ENST00000696705.1:c.*432A>T	ENSP00000512824.1:n.*432A>T
ENST00000422285.7:c.977A>T MANE Select	ENSP00000394382.2:p.Asn326Ile
ENST00000379804.1:c.134A>T	ENSP00000369132.1:p.Asn45Ile
ENST00000379806.9:c.1091A>T	ENSP00000369134.5:p.Asn364Ile
ENST00000422285.6:c.977A>T	ENSP00000394382.2:p.Asn326Ile
ENST00000478795.1:n.416A>T
ENST00000481733.1:n.405A>T
ENST00000540249.5:c.884A>T	ENSP00000440761.1:p.Asn295Ile
ENST00000545074.5:c.998A>T	ENSP00000438550.1:p.Asn333Ile
NM_000284.3:c.977A>T	NP_000275.1:p.Asn326Ile
NM_001173454.1:c.1091A>T	NP_001166925.1:p.Asn364Ile
NM_001173455.1:c.998A>T	NP_001166926.1:p.Asn333Ile
NM_001173456.1:c.884A>T	NP_001166927.1:p.Asn295Ile
XM_011545531.1:c.1112A>T	XP_011543833.1:p.Asn371Ile
XM_011545532.1:c.1019A>T	XP_011543834.1:p.Asn340Ile
XM_017029574.2:c.998A>T	XP_016885063.1:p.Asn333Ile
NM_000284.4:c.977A>T MANE Select	NP_000275.1:p.Asn326Ile
NM_001173454.2:c.1091A>T	NP_001166925.1:p.Asn364Ile
NM_001173455.2:c.998A>T	NP_001166926.1:p.Asn333Ile
NM_001173456.2:c.884A>T	NP_001166927.1:p.Asn295Ile