Canonical Allele Identifier: CA321249

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214940
• ClinVar RCV Id: RCV001091314 ; RCV001731151
• dbSNP Id: rs199959402
• gnomAD v3: X-19351368-C-T
• gnomAD v4: X-19351368-C-T
• COSMIC: COSM299976
• MyVariant Identifiers: chrX:g.19369486C>T (hg19) ; chrX:g.19351368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351368C>T , CM000685.2:g.19351368C>T	GRCh38
NC_000023.10:g.19369486C>T , CM000685.1:g.19369486C>T	GRCh37
NC_000023.9:g.19279407C>T	NCBI36
NG_016781.1:g.12476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.400C>T	ENSP00000348062.6:p.Arg134Trp
ENST00000379805.4:c.379C>T	ENSP00000369133.3:p.Arg127Trp
ENST00000417819.6:c.463C>T	ENSP00000404616.2:p.Arg155Trp
ENST00000423505.6:c.493C>T	ENSP00000406473.2:p.Arg165Trp
ENST00000696704.1:c.379C>T	ENSP00000512823.1:p.Arg127Trp
ENST00000696705.1:c.379C>T	ENSP00000512824.1:p.Arg127Trp
ENST00000422285.7:c.379C>T MANE Select	ENSP00000394382.2:p.Arg127Trp
ENST00000355808.9:c.400C>T	ENSP00000348062.5:p.Arg134Trp
ENST00000379805.3:c.379C>T	ENSP00000369133.3:p.Arg127Trp
ENST00000379806.9:c.493C>T	ENSP00000369134.5:p.Arg165Trp
ENST00000422285.6:c.379C>T	ENSP00000394382.2:p.Arg127Trp
ENST00000423505.5:c.493C>T	ENSP00000406473.1:p.Arg165Trp
ENST00000492364.1:n.481C>T
ENST00000540249.5:c.379C>T	ENSP00000440761.1:p.Arg127Trp
ENST00000545074.5:c.400C>T	ENSP00000438550.1:p.Arg134Trp
NM_000284.3:c.379C>T	NP_000275.1:p.Arg127Trp
NM_001173454.1:c.493C>T	NP_001166925.1:p.Arg165Trp
NM_001173455.1:c.400C>T	NP_001166926.1:p.Arg134Trp
NM_001173456.1:c.379C>T	NP_001166927.1:p.Arg127Trp
XM_011545531.1:c.514C>T	XP_011543833.1:p.Arg172Trp
XM_011545532.1:c.514C>T	XP_011543834.1:p.Arg172Trp
XM_017029574.2:c.493C>T	XP_016885063.1:p.Arg165Trp
NM_000284.4:c.379C>T MANE Select	NP_000275.1:p.Arg127Trp
NM_001173454.2:c.493C>T	NP_001166925.1:p.Arg165Trp
NM_001173455.2:c.400C>T	NP_001166926.1:p.Arg134Trp
NM_001173456.2:c.379C>T	NP_001166927.1:p.Arg127Trp