Canonical Allele Identifier: CA412394334

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373490C>G (hg19) ; chrX:g.19355372C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355372C>G , CM000685.2:g.19355372C>G	GRCh38
NC_000023.10:g.19373490C>G , CM000685.1:g.19373490C>G	GRCh37
NC_000023.9:g.19283411C>G	NCBI36
NG_016781.1:g.16480C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.648C>G	ENSP00000348062.6:p.Asn216Lys
ENST00000379805.4:c.*319C>G	ENSP00000369133.3:n.*319C>G
ENST00000417819.6:c.711C>G	ENSP00000404616.2:p.Asn237Lys
ENST00000423505.6:c.741C>G	ENSP00000406473.2:p.Asn247Lys
ENST00000481733.2:n.422C>G
ENST00000696704.1:c.442C>G	ENSP00000512823.1:p.His148Asp
ENST00000696705.1:c.*82C>G	ENSP00000512824.1:n.*82C>G
ENST00000422285.7:c.627C>G MANE Select	ENSP00000394382.2:p.Asn209Lys
ENST00000379806.9:c.741C>G	ENSP00000369134.5:p.Asn247Lys
ENST00000422285.6:c.627C>G	ENSP00000394382.2:p.Asn209Lys
ENST00000479146.1:n.462C>G
ENST00000481733.1:n.55C>G
ENST00000540249.5:c.534C>G	ENSP00000440761.1:p.Asn178Lys
ENST00000545074.5:c.648C>G	ENSP00000438550.1:p.Asn216Lys
NM_000284.3:c.627C>G	NP_000275.1:p.Asn209Lys
NM_001173454.1:c.741C>G	NP_001166925.1:p.Asn247Lys
NM_001173455.1:c.648C>G	NP_001166926.1:p.Asn216Lys
NM_001173456.1:c.534C>G	NP_001166927.1:p.Asn178Lys
XM_011545531.1:c.762C>G	XP_011543833.1:p.Asn254Lys
XM_011545532.1:c.669C>G	XP_011543834.1:p.Asn223Lys
XM_017029574.2:c.648C>G	XP_016885063.1:p.Asn216Lys
NM_000284.4:c.627C>G MANE Select	NP_000275.1:p.Asn209Lys
NM_001173454.2:c.741C>G	NP_001166925.1:p.Asn247Lys
NM_001173455.2:c.648C>G	NP_001166926.1:p.Asn216Lys
NM_001173456.2:c.534C>G	NP_001166927.1:p.Asn178Lys