Canonical Allele Identifier: CA412396100

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358936-T-C
• MyVariant Identifiers: chrX:g.19377054T>C (hg19) ; chrX:g.19358936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358936T>C , CM000685.2:g.19358936T>C	GRCh38
NC_000023.10:g.19377054T>C , CM000685.1:g.19377054T>C	GRCh37
NC_000023.9:g.19286975T>C	NCBI36
NG_016781.1:g.20044T>C
NG_021184.1:g.161326A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.941T>C	ENSP00000348062.6:p.Ile314Thr
ENST00000379805.4:c.*612T>C	ENSP00000369133.3:n.*612T>C
ENST00000417819.6:c.1004T>C	ENSP00000404616.2:p.Ile335Thr
ENST00000423505.6:c.1034T>C	ENSP00000406473.2:p.Ile345Thr
ENST00000481733.2:n.715T>C
ENST00000696704.1:c.*252T>C	ENSP00000512823.1:n.*252T>C
ENST00000696705.1:c.*375T>C	ENSP00000512824.1:n.*375T>C
ENST00000422285.7:c.920T>C MANE Select	ENSP00000394382.2:p.Ile307Thr
ENST00000379804.1:c.77T>C	ENSP00000369132.1:p.Ile26Thr
ENST00000379806.9:c.1034T>C	ENSP00000369134.5:p.Ile345Thr
ENST00000422285.6:c.920T>C	ENSP00000394382.2:p.Ile307Thr
ENST00000478795.1:n.359T>C
ENST00000481733.1:n.348T>C
ENST00000540249.5:c.827T>C	ENSP00000440761.1:p.Ile276Thr
ENST00000545074.5:c.941T>C	ENSP00000438550.1:p.Ile314Thr
NM_000284.3:c.920T>C	NP_000275.1:p.Ile307Thr
NM_001173454.1:c.1034T>C	NP_001166925.1:p.Ile345Thr
NM_001173455.1:c.941T>C	NP_001166926.1:p.Ile314Thr
NM_001173456.1:c.827T>C	NP_001166927.1:p.Ile276Thr
XM_011545531.1:c.1055T>C	XP_011543833.1:p.Ile352Thr
XM_011545532.1:c.962T>C	XP_011543834.1:p.Ile321Thr
XM_017029574.2:c.941T>C	XP_016885063.1:p.Ile314Thr
NM_000284.4:c.920T>C MANE Select	NP_000275.1:p.Ile307Thr
NM_001173454.2:c.1034T>C	NP_001166925.1:p.Ile345Thr
NM_001173455.2:c.941T>C	NP_001166926.1:p.Ile314Thr
NM_001173456.2:c.827T>C	NP_001166927.1:p.Ile276Thr