Canonical Allele Identifier: CA412394523

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373543A>C (hg19) ; chrX:g.19355425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355425A>C , CM000685.2:g.19355425A>C	GRCh38
NC_000023.10:g.19373543A>C , CM000685.1:g.19373543A>C	GRCh37
NC_000023.9:g.19283464A>C	NCBI36
NG_016781.1:g.16533A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.701A>C	ENSP00000348062.6:p.Tyr234Ser
ENST00000379805.4:c.*372A>C	ENSP00000369133.3:n.*372A>C
ENST00000417819.6:c.764A>C	ENSP00000404616.2:p.Tyr255Ser
ENST00000423505.6:c.794A>C	ENSP00000406473.2:p.Tyr265Ser
ENST00000481733.2:n.475A>C
ENST00000696704.1:c.*12A>C	ENSP00000512823.1:n.*12A>C
ENST00000696705.1:c.*135A>C	ENSP00000512824.1:n.*135A>C
ENST00000422285.7:c.680A>C MANE Select	ENSP00000394382.2:p.Tyr227Ser
ENST00000379806.9:c.794A>C	ENSP00000369134.5:p.Tyr265Ser
ENST00000422285.6:c.680A>C	ENSP00000394382.2:p.Tyr227Ser
ENST00000479146.1:n.515A>C
ENST00000481733.1:n.108A>C
ENST00000540249.5:c.587A>C	ENSP00000440761.1:p.Tyr196Ser
ENST00000545074.5:c.701A>C	ENSP00000438550.1:p.Tyr234Ser
NM_000284.3:c.680A>C	NP_000275.1:p.Tyr227Ser
NM_001173454.1:c.794A>C	NP_001166925.1:p.Tyr265Ser
NM_001173455.1:c.701A>C	NP_001166926.1:p.Tyr234Ser
NM_001173456.1:c.587A>C	NP_001166927.1:p.Tyr196Ser
XM_011545531.1:c.815A>C	XP_011543833.1:p.Tyr272Ser
XM_011545532.1:c.722A>C	XP_011543834.1:p.Tyr241Ser
XM_017029574.2:c.701A>C	XP_016885063.1:p.Tyr234Ser
NM_000284.4:c.680A>C MANE Select	NP_000275.1:p.Tyr227Ser
NM_001173454.2:c.794A>C	NP_001166925.1:p.Tyr265Ser
NM_001173455.2:c.701A>C	NP_001166926.1:p.Tyr234Ser
NM_001173456.2:c.587A>C	NP_001166927.1:p.Tyr196Ser