Canonical Allele Identifier: CA10363075

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2159236
• ClinVar RCV Id: RCV003093734
• dbSNP Id: rs137853254
• ExAC: X:19373478 C / T
• gnomAD v2: X-19373478-C-T
• gnomAD v4: X-19355360-C-T
• COSMIC: COSM283930 ; COSM4506782 ; COSM4506783
• MyVariant Identifiers: chrX:g.19373478C>T (hg19) ; chrX:g.19355360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355360C>T , CM000685.2:g.19355360C>T	GRCh38
NC_000023.10:g.19373478C>T , CM000685.1:g.19373478C>T	GRCh37
NC_000023.9:g.19283399C>T	NCBI36
NG_016781.1:g.16468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.636C>T	ENSP00000348062.6:p.Phe212=
ENST00000379805.4:c.*307C>T	ENSP00000369133.3:n.*307C>T
ENST00000417819.6:c.699C>T	ENSP00000404616.2:p.Phe233=
ENST00000423505.6:c.729C>T	ENSP00000406473.2:p.Phe243=
ENST00000481733.2:n.410C>T
ENST00000696704.1:c.430C>T	ENSP00000512823.1:p.Arg144Ter
ENST00000696705.1:c.*70C>T	ENSP00000512824.1:n.*70C>T
ENST00000422285.7:c.615C>T MANE Select	ENSP00000394382.2:p.Phe205=
ENST00000379806.9:c.729C>T	ENSP00000369134.5:p.Phe243=
ENST00000422285.6:c.615C>T	ENSP00000394382.2:p.Phe205=
ENST00000479146.1:n.450C>T
ENST00000481733.1:n.43C>T
ENST00000540249.5:c.522C>T	ENSP00000440761.1:p.Phe174=
ENST00000545074.5:c.636C>T	ENSP00000438550.1:p.Phe212=
NM_000284.3:c.615C>T	NP_000275.1:p.Phe205=
NM_001173454.1:c.729C>T	NP_001166925.1:p.Phe243=
NM_001173455.1:c.636C>T	NP_001166926.1:p.Phe212=
NM_001173456.1:c.522C>T	NP_001166927.1:p.Phe174=
XM_011545531.1:c.750C>T	XP_011543833.1:p.Phe250=
XM_011545532.1:c.657C>T	XP_011543834.1:p.Phe219=
XM_017029574.2:c.636C>T	XP_016885063.1:p.Phe212=
NM_000284.4:c.615C>T MANE Select	NP_000275.1:p.Phe205=
NM_001173454.2:c.729C>T	NP_001166925.1:p.Phe243=
NM_001173455.2:c.636C>T	NP_001166926.1:p.Phe212=
NM_001173456.2:c.522C>T	NP_001166927.1:p.Phe174=