Canonical Allele Identifier: CA873741580

Gene: PDHA1

Linked Data

• dbSNP Id: rs1443516060
• MyVariant Identifiers: chrX:g.19376782_19376783insGTACGGTTTTCTAGAAAAGACAGAAGC (hg19) ; chrX:g.19358664_19358665insGTACGGTTTTCTAGAAAAGACAGAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358665_19358691dup , CM000685.2:g.19358665_19358691dup	GRCh38
NC_000023.10:g.19376783_19376809dup , CM000685.1:g.19376783_19376809dup	GRCh37
NC_000023.9:g.19286704_19286730dup	NCBI36
NG_016781.1:g.19773_19799dup
NG_021184.1:g.161571_161597dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-251_921-225dup	ENSP00000348062.6:n.921-251_921-225dup
ENST00000379805.4:c.*592-251_*592-225dup	ENSP00000369133.3:n.*592-251_*592-225dup
ENST00000417819.6:c.984-251_984-225dup	ENSP00000404616.2:n.984-251_984-225dup
ENST00000423505.6:c.1014-251_1014-225dup	ENSP00000406473.2:n.1014-251_1014-225dup
ENST00000481733.2:n.695-251_695-225dup
ENST00000696704.1:c.*232-251_*232-225dup	ENSP00000512823.1:n.*232-251_*232-225dup
ENST00000696705.1:c.*355-251_*355-225dup	ENSP00000512824.1:n.*355-251_*355-225dup
ENST00000422285.7:c.900-251_900-225dup MANE Select	ENSP00000394382.2:n.900-251_900-225dup
ENST00000379804.1:c.57-251_57-225dup	ENSP00000369132.1:n.57-251_57-225dup
ENST00000379806.9:c.1014-251_1014-225dup	ENSP00000369134.5:n.1014-251_1014-225dup
ENST00000422285.6:c.900-251_900-225dup	ENSP00000394382.2:n.900-251_900-225dup
ENST00000478795.1:n.339-251_339-225dup
ENST00000481733.1:n.328-251_328-225dup
ENST00000540249.5:c.807-251_807-225dup	ENSP00000440761.1:n.807-251_807-225dup
ENST00000545074.5:c.921-251_921-225dup	ENSP00000438550.1:n.921-251_921-225dup
NM_000284.3:c.900-251_900-225dup	NP_000275.1:n.900-251_900-225dup
NM_001173454.1:c.1014-251_1014-225dup	NP_001166925.1:n.1014-251_1014-225dup
NM_001173455.1:c.921-251_921-225dup	NP_001166926.1:n.921-251_921-225dup
NM_001173456.1:c.807-251_807-225dup	NP_001166927.1:n.807-251_807-225dup
XM_011545531.1:c.1035-251_1035-225dup	XP_011543833.1:n.1035-251_1035-225dup
XM_011545532.1:c.942-251_942-225dup	XP_011543834.1:n.942-251_942-225dup
XM_017029574.2:c.921-251_921-225dup	XP_016885063.1:n.921-251_921-225dup
NM_000284.4:c.900-251_900-225dup MANE Select	NP_000275.1:n.900-251_900-225dup
NM_001173454.2:c.1014-251_1014-225dup	NP_001166925.1:n.1014-251_1014-225dup
NM_001173455.2:c.921-251_921-225dup	NP_001166926.1:n.921-251_921-225dup
NM_001173456.2:c.807-251_807-225dup	NP_001166927.1:n.807-251_807-225dup