Canonical Allele Identifier: CA412394757

Gene: PDHA1

Linked Data

• gnomAD v4: X-19355705-T-C
• MyVariant Identifiers: chrX:g.19373823T>C (hg19) ; chrX:g.19355705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355705T>C , CM000685.2:g.19355705T>C	GRCh38
NC_000023.10:g.19373823T>C , CM000685.1:g.19373823T>C	GRCh37
NC_000023.9:g.19283744T>C	NCBI36
NG_016781.1:g.16813T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.800T>C	ENSP00000348062.6:p.Leu267Pro
ENST00000379805.4:c.*471T>C	ENSP00000369133.3:n.*471T>C
ENST00000417819.6:c.863T>C	ENSP00000404616.2:p.Leu288Pro
ENST00000423505.6:c.893T>C	ENSP00000406473.2:p.Leu298Pro
ENST00000481733.2:n.574T>C
ENST00000696704.1:c.*111T>C	ENSP00000512823.1:n.*111T>C
ENST00000696705.1:c.*234T>C	ENSP00000512824.1:n.*234T>C
ENST00000422285.7:c.779T>C MANE Select	ENSP00000394382.2:p.Leu260Pro
ENST00000379804.1:c.-65T>C	ENSP00000369132.1:n.-65T>C
ENST00000379806.9:c.893T>C	ENSP00000369134.5:p.Leu298Pro
ENST00000422285.6:c.779T>C	ENSP00000394382.2:p.Leu260Pro
ENST00000481733.1:n.207T>C
ENST00000540249.5:c.686T>C	ENSP00000440761.1:p.Leu229Pro
ENST00000545074.5:c.800T>C	ENSP00000438550.1:p.Leu267Pro
NM_000284.3:c.779T>C	NP_000275.1:p.Leu260Pro
NM_001173454.1:c.893T>C	NP_001166925.1:p.Leu298Pro
NM_001173455.1:c.800T>C	NP_001166926.1:p.Leu267Pro
NM_001173456.1:c.686T>C	NP_001166927.1:p.Leu229Pro
XM_011545531.1:c.914T>C	XP_011543833.1:p.Leu305Pro
XM_011545532.1:c.821T>C	XP_011543834.1:p.Leu274Pro
XM_017029574.2:c.800T>C	XP_016885063.1:p.Leu267Pro
NM_000284.4:c.779T>C MANE Select	NP_000275.1:p.Leu260Pro
NM_001173454.2:c.893T>C	NP_001166925.1:p.Leu298Pro
NM_001173455.2:c.800T>C	NP_001166926.1:p.Leu267Pro
NM_001173456.2:c.686T>C	NP_001166927.1:p.Leu229Pro