Canonical Allele Identifier: CA412396277

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377129T>C (hg19) ; chrX:g.19359011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359011T>C , CM000685.2:g.19359011T>C	GRCh38
NC_000023.10:g.19377129T>C , CM000685.1:g.19377129T>C	GRCh37
NC_000023.9:g.19287050T>C	NCBI36
NG_016781.1:g.20119T>C
NG_021184.1:g.161251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1016T>C	ENSP00000348062.6:p.Val339Ala
ENST00000379805.4:c.*687T>C	ENSP00000369133.3:n.*687T>C
ENST00000417819.6:c.1079T>C	ENSP00000404616.2:p.Val360Ala
ENST00000423505.6:c.1109T>C	ENSP00000406473.2:p.Val370Ala
ENST00000481733.2:n.790T>C
ENST00000696704.1:c.*327T>C	ENSP00000512823.1:n.*327T>C
ENST00000696705.1:c.*450T>C	ENSP00000512824.1:n.*450T>C
ENST00000422285.7:c.995T>C MANE Select	ENSP00000394382.2:p.Val332Ala
ENST00000379804.1:c.152T>C	ENSP00000369132.1:p.Val51Ala
ENST00000379806.9:c.1109T>C	ENSP00000369134.5:p.Val370Ala
ENST00000422285.6:c.995T>C	ENSP00000394382.2:p.Val332Ala
ENST00000478795.1:n.434T>C
ENST00000481733.1:n.423T>C
ENST00000540249.5:c.902T>C	ENSP00000440761.1:p.Val301Ala
ENST00000545074.5:c.1016T>C	ENSP00000438550.1:p.Val339Ala
NM_000284.3:c.995T>C	NP_000275.1:p.Val332Ala
NM_001173454.1:c.1109T>C	NP_001166925.1:p.Val370Ala
NM_001173455.1:c.1016T>C	NP_001166926.1:p.Val339Ala
NM_001173456.1:c.902T>C	NP_001166927.1:p.Val301Ala
XM_011545531.1:c.1130T>C	XP_011543833.1:p.Val377Ala
XM_011545532.1:c.1037T>C	XP_011543834.1:p.Val346Ala
XM_017029574.2:c.1016T>C	XP_016885063.1:p.Val339Ala
NM_000284.4:c.995T>C MANE Select	NP_000275.1:p.Val332Ala
NM_001173454.2:c.1109T>C	NP_001166925.1:p.Val370Ala
NM_001173455.2:c.1016T>C	NP_001166926.1:p.Val339Ala
NM_001173456.2:c.902T>C	NP_001166927.1:p.Val301Ala