Canonical Allele Identifier: CA515485994

Gene: PDHA1

Linked Data

• dbSNP Id: rs1602227513
• MyVariant Identifiers: chrX:g.19373490C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.648C>T	ENSP00000348062.6:p.Asn216=
ENST00000379805.4:c.*319C>T	ENSP00000369133.3:n.*319C>T
ENST00000417819.6:c.711C>T	ENSP00000404616.2:p.Asn237=
ENST00000423505.6:c.741C>T	ENSP00000406473.2:p.Asn247=
ENST00000481733.2:n.422C>T
ENST00000696704.1:c.442C>T	ENSP00000512823.1:p.His148Tyr
ENST00000696705.1:c.*82C>T	ENSP00000512824.1:n.*82C>T
ENST00000422285.7:c.627C>T MANE Select	ENSP00000394382.2:p.Asn209=
ENST00000379806.9:c.741C>T	ENSP00000369134.5:p.Asn247=
ENST00000422285.6:c.627C>T	ENSP00000394382.2:p.Asn209=
ENST00000479146.1:n.462C>T
ENST00000481733.1:n.55C>T
ENST00000540249.5:c.534C>T	ENSP00000440761.1:p.Asn178=
ENST00000545074.5:c.648C>T	ENSP00000438550.1:p.Asn216=
NM_000284.3:c.627C>T	NP_000275.1:p.Asn209=
NM_001173454.1:c.741C>T	NP_001166925.1:p.Asn247=
NM_001173455.1:c.648C>T	NP_001166926.1:p.Asn216=
NM_001173456.1:c.534C>T	NP_001166927.1:p.Asn178=
XM_011545531.1:c.762C>T	XP_011543833.1:p.Asn254=
XM_011545532.1:c.669C>T	XP_011543834.1:p.Asn223=
XM_017029574.2:c.648C>T	XP_016885063.1:p.Asn216=
NM_000284.4:c.627C>T MANE Select	NP_000275.1:p.Asn209=
NM_001173454.2:c.741C>T	NP_001166925.1:p.Asn247=
NM_001173455.2:c.648C>T	NP_001166926.1:p.Asn216=
NM_001173456.2:c.534C>T	NP_001166927.1:p.Asn178=