Canonical Allele Identifier: CA515486325

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377076T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358958T>C , CM000685.2:g.19358958T>C	GRCh38
NC_000023.10:g.19377076T>C , CM000685.1:g.19377076T>C	GRCh37
NC_000023.9:g.19286997T>C	NCBI36
NG_016781.1:g.20066T>C
NG_021184.1:g.161304A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.963T>C	ENSP00000348062.6:p.Ser321=
ENST00000379805.4:c.*634T>C	ENSP00000369133.3:n.*634T>C
ENST00000417819.6:c.1026T>C	ENSP00000404616.2:p.Ser342=
ENST00000423505.6:c.1056T>C	ENSP00000406473.2:p.Ser352=
ENST00000481733.2:n.737T>C
ENST00000696704.1:c.*274T>C	ENSP00000512823.1:n.*274T>C
ENST00000696705.1:c.*397T>C	ENSP00000512824.1:n.*397T>C
ENST00000422285.7:c.942T>C MANE Select	ENSP00000394382.2:p.Ser314=
ENST00000379804.1:c.99T>C	ENSP00000369132.1:p.Ser33=
ENST00000379806.9:c.1056T>C	ENSP00000369134.5:p.Ser352=
ENST00000422285.6:c.942T>C	ENSP00000394382.2:p.Ser314=
ENST00000478795.1:n.381T>C
ENST00000481733.1:n.370T>C
ENST00000540249.5:c.849T>C	ENSP00000440761.1:p.Ser283=
ENST00000545074.5:c.963T>C	ENSP00000438550.1:p.Ser321=
NM_000284.3:c.942T>C	NP_000275.1:p.Ser314=
NM_001173454.1:c.1056T>C	NP_001166925.1:p.Ser352=
NM_001173455.1:c.963T>C	NP_001166926.1:p.Ser321=
NM_001173456.1:c.849T>C	NP_001166927.1:p.Ser283=
XM_011545531.1:c.1077T>C	XP_011543833.1:p.Ser359=
XM_011545532.1:c.984T>C	XP_011543834.1:p.Ser328=
XM_017029574.2:c.963T>C	XP_016885063.1:p.Ser321=
NM_000284.4:c.942T>C MANE Select	NP_000275.1:p.Ser314=
NM_001173454.2:c.1056T>C	NP_001166925.1:p.Ser352=
NM_001173455.2:c.963T>C	NP_001166926.1:p.Ser321=
NM_001173456.2:c.849T>C	NP_001166927.1:p.Ser283=