Canonical Allele Identifier: CA412394740

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373816G>A (hg19) ; chrX:g.19355698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355698G>A , CM000685.2:g.19355698G>A	GRCh38
NC_000023.10:g.19373816G>A , CM000685.1:g.19373816G>A	GRCh37
NC_000023.9:g.19283737G>A	NCBI36
NG_016781.1:g.16806G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.793G>A	ENSP00000348062.6:p.Asp265Asn
ENST00000379805.4:c.*464G>A	ENSP00000369133.3:n.*464G>A
ENST00000417819.6:c.856G>A	ENSP00000404616.2:p.Asp286Asn
ENST00000423505.6:c.886G>A	ENSP00000406473.2:p.Asp296Asn
ENST00000481733.2:n.567G>A
ENST00000696704.1:c.*104G>A	ENSP00000512823.1:n.*104G>A
ENST00000696705.1:c.*227G>A	ENSP00000512824.1:n.*227G>A
ENST00000422285.7:c.772G>A MANE Select	ENSP00000394382.2:p.Asp258Asn
ENST00000379804.1:c.-72G>A	ENSP00000369132.1:n.-72G>A
ENST00000379806.9:c.886G>A	ENSP00000369134.5:p.Asp296Asn
ENST00000422285.6:c.772G>A	ENSP00000394382.2:p.Asp258Asn
ENST00000481733.1:n.200G>A
ENST00000540249.5:c.679G>A	ENSP00000440761.1:p.Asp227Asn
ENST00000545074.5:c.793G>A	ENSP00000438550.1:p.Asp265Asn
NM_000284.3:c.772G>A	NP_000275.1:p.Asp258Asn
NM_001173454.1:c.886G>A	NP_001166925.1:p.Asp296Asn
NM_001173455.1:c.793G>A	NP_001166926.1:p.Asp265Asn
NM_001173456.1:c.679G>A	NP_001166927.1:p.Asp227Asn
XM_011545531.1:c.907G>A	XP_011543833.1:p.Asp303Asn
XM_011545532.1:c.814G>A	XP_011543834.1:p.Asp272Asn
XM_017029574.2:c.793G>A	XP_016885063.1:p.Asp265Asn
NM_000284.4:c.772G>A MANE Select	NP_000275.1:p.Asp258Asn
NM_001173454.2:c.886G>A	NP_001166925.1:p.Asp296Asn
NM_001173455.2:c.793G>A	NP_001166926.1:p.Asp265Asn
NM_001173456.2:c.679G>A	NP_001166927.1:p.Asp227Asn