Canonical Allele Identifier: CA412394345

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373492T>C (hg19) ; chrX:g.19355374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355374T>C , CM000685.2:g.19355374T>C	GRCh38
NC_000023.10:g.19373492T>C , CM000685.1:g.19373492T>C	GRCh37
NC_000023.9:g.19283413T>C	NCBI36
NG_016781.1:g.16482T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.650T>C	ENSP00000348062.6:p.Met217Thr
ENST00000379805.4:c.*321T>C	ENSP00000369133.3:n.*321T>C
ENST00000417819.6:c.713T>C	ENSP00000404616.2:p.Met238Thr
ENST00000423505.6:c.743T>C	ENSP00000406473.2:p.Met248Thr
ENST00000481733.2:n.424T>C
ENST00000696704.1:c.444T>C	ENSP00000512823.1:p.His148=
ENST00000696705.1:c.*84T>C	ENSP00000512824.1:n.*84T>C
ENST00000422285.7:c.629T>C MANE Select	ENSP00000394382.2:p.Met210Thr
ENST00000379806.9:c.743T>C	ENSP00000369134.5:p.Met248Thr
ENST00000422285.6:c.629T>C	ENSP00000394382.2:p.Met210Thr
ENST00000479146.1:n.464T>C
ENST00000481733.1:n.57T>C
ENST00000540249.5:c.536T>C	ENSP00000440761.1:p.Met179Thr
ENST00000545074.5:c.650T>C	ENSP00000438550.1:p.Met217Thr
NM_000284.3:c.629T>C	NP_000275.1:p.Met210Thr
NM_001173454.1:c.743T>C	NP_001166925.1:p.Met248Thr
NM_001173455.1:c.650T>C	NP_001166926.1:p.Met217Thr
NM_001173456.1:c.536T>C	NP_001166927.1:p.Met179Thr
XM_011545531.1:c.764T>C	XP_011543833.1:p.Met255Thr
XM_011545532.1:c.671T>C	XP_011543834.1:p.Met224Thr
XM_017029574.2:c.650T>C	XP_016885063.1:p.Met217Thr
NM_000284.4:c.629T>C MANE Select	NP_000275.1:p.Met210Thr
NM_001173454.2:c.743T>C	NP_001166925.1:p.Met248Thr
NM_001173455.2:c.650T>C	NP_001166926.1:p.Met217Thr
NM_001173456.2:c.536T>C	NP_001166927.1:p.Met179Thr