Canonical Allele Identifier: CA412397486

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377766A>C (hg19) ; chrX:g.19359648A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359648A>C , CM000685.2:g.19359648A>C	GRCh38
NC_000023.10:g.19377766A>C , CM000685.1:g.19377766A>C	GRCh37
NC_000023.9:g.19287687A>C	NCBI36
NG_016781.1:g.20756A>C
NG_021184.1:g.160614T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1189A>C	ENSP00000348062.6:p.Ser397Arg
ENST00000379805.4:c.*860A>C	ENSP00000369133.3:n.*860A>C
ENST00000417819.6:c.1252A>C	ENSP00000404616.2:p.Ser418Arg
ENST00000423505.6:c.1282A>C	ENSP00000406473.2:p.Ser428Arg
ENST00000481733.2:n.963A>C
ENST00000696704.1:c.*500A>C	ENSP00000512823.1:n.*500A>C
ENST00000696705.1:c.*623A>C	ENSP00000512824.1:n.*623A>C
ENST00000422285.7:c.1168A>C MANE Select	ENSP00000394382.2:p.Ser390Arg
ENST00000379804.1:c.325A>C	ENSP00000369132.1:p.Ser109Arg
ENST00000379806.9:c.1282A>C	ENSP00000369134.5:p.Ser428Arg
ENST00000422285.6:c.1168A>C	ENSP00000394382.2:p.Ser390Arg
ENST00000478795.1:n.607A>C
ENST00000540249.5:c.1075A>C	ENSP00000440761.1:p.Ser359Arg
ENST00000545074.5:c.1189A>C	ENSP00000438550.1:p.Ser397Arg
NM_000284.3:c.1168A>C	NP_000275.1:p.Ser390Arg
NM_001173454.1:c.1282A>C	NP_001166925.1:p.Ser428Arg
NM_001173455.1:c.1189A>C	NP_001166926.1:p.Ser397Arg
NM_001173456.1:c.1075A>C	NP_001166927.1:p.Ser359Arg
XM_011545531.1:c.1303A>C	XP_011543833.1:p.Ser435Arg
XM_011545532.1:c.1210A>C	XP_011543834.1:p.Ser404Arg
XM_017029574.2:c.1189A>C	XP_016885063.1:p.Ser397Arg
NM_000284.4:c.1168A>C MANE Select	NP_000275.1:p.Ser390Arg
NM_001173454.2:c.1282A>C	NP_001166925.1:p.Ser428Arg
NM_001173455.2:c.1189A>C	NP_001166926.1:p.Ser397Arg
NM_001173456.2:c.1075A>C	NP_001166927.1:p.Ser359Arg