Canonical Allele Identifier: CA412394635

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373593A>C (hg19) ; chrX:g.19355475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355475A>C , CM000685.2:g.19355475A>C	GRCh38
NC_000023.10:g.19373593A>C , CM000685.1:g.19373593A>C	GRCh37
NC_000023.9:g.19283514A>C	NCBI36
NG_016781.1:g.16583A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.751A>C	ENSP00000348062.6:p.Lys251Gln
ENST00000379805.4:c.*422A>C	ENSP00000369133.3:n.*422A>C
ENST00000417819.6:c.814A>C	ENSP00000404616.2:p.Lys272Gln
ENST00000423505.6:c.844A>C	ENSP00000406473.2:p.Lys282Gln
ENST00000481733.2:n.525A>C
ENST00000696704.1:c.*62A>C	ENSP00000512823.1:n.*62A>C
ENST00000696705.1:c.*185A>C	ENSP00000512824.1:n.*185A>C
ENST00000422285.7:c.730A>C MANE Select	ENSP00000394382.2:p.Lys244Gln
ENST00000379806.9:c.844A>C	ENSP00000369134.5:p.Lys282Gln
ENST00000422285.6:c.730A>C	ENSP00000394382.2:p.Lys244Gln
ENST00000481733.1:n.158A>C
ENST00000540249.5:c.637A>C	ENSP00000440761.1:p.Lys213Gln
ENST00000545074.5:c.751A>C	ENSP00000438550.1:p.Lys251Gln
NM_000284.3:c.730A>C	NP_000275.1:p.Lys244Gln
NM_001173454.1:c.844A>C	NP_001166925.1:p.Lys282Gln
NM_001173455.1:c.751A>C	NP_001166926.1:p.Lys251Gln
NM_001173456.1:c.637A>C	NP_001166927.1:p.Lys213Gln
XM_011545531.1:c.865A>C	XP_011543833.1:p.Lys289Gln
XM_011545532.1:c.772A>C	XP_011543834.1:p.Lys258Gln
XM_017029574.2:c.751A>C	XP_016885063.1:p.Lys251Gln
NM_000284.4:c.730A>C MANE Select	NP_000275.1:p.Lys244Gln
NM_001173454.2:c.844A>C	NP_001166925.1:p.Lys282Gln
NM_001173455.2:c.751A>C	NP_001166926.1:p.Lys251Gln
NM_001173456.2:c.637A>C	NP_001166927.1:p.Lys213Gln