Canonical Allele Identifier: CA412395194

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375798A>C (hg19) ; chrX:g.19357680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357680A>C , CM000685.2:g.19357680A>C	GRCh38
NC_000023.10:g.19375798A>C , CM000685.1:g.19375798A>C	GRCh37
NC_000023.9:g.19285719A>C	NCBI36
NG_016781.1:g.18788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.881A>C	ENSP00000348062.6:p.Tyr294Ser
ENST00000379805.4:c.*552A>C	ENSP00000369133.3:n.*552A>C
ENST00000417819.6:c.944A>C	ENSP00000404616.2:p.Tyr315Ser
ENST00000423505.6:c.974A>C	ENSP00000406473.2:p.Tyr325Ser
ENST00000481733.2:n.655A>C
ENST00000696704.1:c.*192A>C	ENSP00000512823.1:n.*192A>C
ENST00000696705.1:c.*315A>C	ENSP00000512824.1:n.*315A>C
ENST00000422285.7:c.860A>C MANE Select	ENSP00000394382.2:p.Tyr287Ser
ENST00000379804.1:c.17A>C	ENSP00000369132.1:p.Tyr6Ser
ENST00000379806.9:c.974A>C	ENSP00000369134.5:p.Tyr325Ser
ENST00000422285.6:c.860A>C	ENSP00000394382.2:p.Tyr287Ser
ENST00000478795.1:n.299A>C
ENST00000481733.1:n.288A>C
ENST00000540249.5:c.767A>C	ENSP00000440761.1:p.Tyr256Ser
ENST00000545074.5:c.881A>C	ENSP00000438550.1:p.Tyr294Ser
NM_000284.3:c.860A>C	NP_000275.1:p.Tyr287Ser
NM_001173454.1:c.974A>C	NP_001166925.1:p.Tyr325Ser
NM_001173455.1:c.881A>C	NP_001166926.1:p.Tyr294Ser
NM_001173456.1:c.767A>C	NP_001166927.1:p.Tyr256Ser
XM_011545531.1:c.995A>C	XP_011543833.1:p.Tyr332Ser
XM_011545532.1:c.902A>C	XP_011543834.1:p.Tyr301Ser
XM_017029574.2:c.881A>C	XP_016885063.1:p.Tyr294Ser
NM_000284.4:c.860A>C MANE Select	NP_000275.1:p.Tyr287Ser
NM_001173454.2:c.974A>C	NP_001166925.1:p.Tyr325Ser
NM_001173455.2:c.881A>C	NP_001166926.1:p.Tyr294Ser
NM_001173456.2:c.767A>C	NP_001166927.1:p.Tyr256Ser