Canonical Allele Identifier: CA10363022

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 516457
• ClinVar RCV Id: RCV000893425 ; RCV001719097
• dbSNP Id: rs191666624
• ExAC: X:19369394 C / T
• gnomAD v2: X-19369394-C-T
• gnomAD v3: X-19351276-C-T
• gnomAD v4: X-19351276-C-T
• MyVariant Identifiers: chrX:g.19369394C>T (hg19) ; chrX:g.19351276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351276C>T , CM000685.2:g.19351276C>T	GRCh38
NC_000023.10:g.19369394C>T , CM000685.1:g.19369394C>T	GRCh37
NC_000023.9:g.19279315C>T	NCBI36
NG_016781.1:g.12384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.308C>T	ENSP00000348062.6:p.Thr103Ile
ENST00000379805.4:c.292-5C>T	ENSP00000369133.3:n.292-5C>T
ENST00000417819.6:c.376-5C>T	ENSP00000404616.2:n.376-5C>T
ENST00000423505.6:c.406-5C>T	ENSP00000406473.2:n.406-5C>T
ENST00000696704.1:c.292-5C>T	ENSP00000512823.1:n.292-5C>T
ENST00000696705.1:c.292-5C>T	ENSP00000512824.1:n.292-5C>T
ENST00000422285.7:c.292-5C>T MANE Select	ENSP00000394382.2:n.292-5C>T
ENST00000355808.9:c.308C>T	ENSP00000348062.5:p.Thr103Ile
ENST00000379805.3:c.292-5C>T	ENSP00000369133.3:n.292-5C>T
ENST00000379806.9:c.406-5C>T	ENSP00000369134.5:n.406-5C>T
ENST00000422285.6:c.292-5C>T	ENSP00000394382.2:n.292-5C>T
ENST00000423505.5:c.406-5C>T	ENSP00000406473.1:n.406-5C>T
ENST00000492364.1:n.394-5C>T
ENST00000540249.5:c.292-5C>T	ENSP00000440761.1:n.292-5C>T
ENST00000545074.5:c.308C>T	ENSP00000438550.1:p.Thr103Ile
NM_000284.3:c.292-5C>T	NP_000275.1:n.292-5C>T
NM_001173454.1:c.406-5C>T	NP_001166925.1:n.406-5C>T
NM_001173455.1:c.308C>T	NP_001166926.1:p.Thr103Ile
NM_001173456.1:c.292-5C>T	NP_001166927.1:n.292-5C>T
XM_011545531.1:c.422C>T	XP_011543833.1:p.Thr141Ile
XM_011545532.1:c.422C>T	XP_011543834.1:p.Thr141Ile
XM_017029574.2:c.406-5C>T	XP_016885063.1:n.406-5C>T
NM_000284.4:c.292-5C>T MANE Select	NP_000275.1:n.292-5C>T
NM_001173454.2:c.406-5C>T	NP_001166925.1:n.406-5C>T
NM_001173455.2:c.308C>T	NP_001166926.1:p.Thr103Ile
NM_001173456.2:c.292-5C>T	NP_001166927.1:n.292-5C>T