Canonical Allele Identifier: CA412396143

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377072A>C (hg19) ; chrX:g.19358954A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358954A>C , CM000685.2:g.19358954A>C	GRCh38
NC_000023.10:g.19377072A>C , CM000685.1:g.19377072A>C	GRCh37
NC_000023.9:g.19286993A>C	NCBI36
NG_016781.1:g.20062A>C
NG_021184.1:g.161308T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.959A>C	ENSP00000348062.6:p.Lys320Thr
ENST00000379805.4:c.*630A>C	ENSP00000369133.3:n.*630A>C
ENST00000417819.6:c.1022A>C	ENSP00000404616.2:p.Lys341Thr
ENST00000423505.6:c.1052A>C	ENSP00000406473.2:p.Lys351Thr
ENST00000481733.2:n.733A>C
ENST00000696704.1:c.*270A>C	ENSP00000512823.1:n.*270A>C
ENST00000696705.1:c.*393A>C	ENSP00000512824.1:n.*393A>C
ENST00000422285.7:c.938A>C MANE Select	ENSP00000394382.2:p.Lys313Thr
ENST00000379804.1:c.95A>C	ENSP00000369132.1:p.Lys32Thr
ENST00000379806.9:c.1052A>C	ENSP00000369134.5:p.Lys351Thr
ENST00000422285.6:c.938A>C	ENSP00000394382.2:p.Lys313Thr
ENST00000478795.1:n.377A>C
ENST00000481733.1:n.366A>C
ENST00000540249.5:c.845A>C	ENSP00000440761.1:p.Lys282Thr
ENST00000545074.5:c.959A>C	ENSP00000438550.1:p.Lys320Thr
NM_000284.3:c.938A>C	NP_000275.1:p.Lys313Thr
NM_001173454.1:c.1052A>C	NP_001166925.1:p.Lys351Thr
NM_001173455.1:c.959A>C	NP_001166926.1:p.Lys320Thr
NM_001173456.1:c.845A>C	NP_001166927.1:p.Lys282Thr
XM_011545531.1:c.1073A>C	XP_011543833.1:p.Lys358Thr
XM_011545532.1:c.980A>C	XP_011543834.1:p.Lys327Thr
XM_017029574.2:c.959A>C	XP_016885063.1:p.Lys320Thr
NM_000284.4:c.938A>C MANE Select	NP_000275.1:p.Lys313Thr
NM_001173454.2:c.1052A>C	NP_001166925.1:p.Lys351Thr
NM_001173455.2:c.959A>C	NP_001166926.1:p.Lys320Thr
NM_001173456.2:c.845A>C	NP_001166927.1:p.Lys282Thr