Canonical Allele Identifier: CA412394753

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063192294
• MyVariant Identifiers: chrX:g.19373821C>G (hg19) ; chrX:g.19355703C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355703C>G , CM000685.2:g.19355703C>G	GRCh38
NC_000023.10:g.19373821C>G , CM000685.1:g.19373821C>G	GRCh37
NC_000023.9:g.19283742C>G	NCBI36
NG_016781.1:g.16811C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.798C>G	ENSP00000348062.6:p.Ile266Met
ENST00000379805.4:c.*469C>G	ENSP00000369133.3:n.*469C>G
ENST00000417819.6:c.861C>G	ENSP00000404616.2:p.Ile287Met
ENST00000423505.6:c.891C>G	ENSP00000406473.2:p.Ile297Met
ENST00000481733.2:n.572C>G
ENST00000696704.1:c.*109C>G	ENSP00000512823.1:n.*109C>G
ENST00000696705.1:c.*232C>G	ENSP00000512824.1:n.*232C>G
ENST00000422285.7:c.777C>G MANE Select	ENSP00000394382.2:p.Ile259Met
ENST00000379804.1:c.-67C>G	ENSP00000369132.1:n.-67C>G
ENST00000379806.9:c.891C>G	ENSP00000369134.5:p.Ile297Met
ENST00000422285.6:c.777C>G	ENSP00000394382.2:p.Ile259Met
ENST00000481733.1:n.205C>G
ENST00000540249.5:c.684C>G	ENSP00000440761.1:p.Ile228Met
ENST00000545074.5:c.798C>G	ENSP00000438550.1:p.Ile266Met
NM_000284.3:c.777C>G	NP_000275.1:p.Ile259Met
NM_001173454.1:c.891C>G	NP_001166925.1:p.Ile297Met
NM_001173455.1:c.798C>G	NP_001166926.1:p.Ile266Met
NM_001173456.1:c.684C>G	NP_001166927.1:p.Ile228Met
XM_011545531.1:c.912C>G	XP_011543833.1:p.Ile304Met
XM_011545532.1:c.819C>G	XP_011543834.1:p.Ile273Met
XM_017029574.2:c.798C>G	XP_016885063.1:p.Ile266Met
NM_000284.4:c.777C>G MANE Select	NP_000275.1:p.Ile259Met
NM_001173454.2:c.891C>G	NP_001166925.1:p.Ile297Met
NM_001173455.2:c.798C>G	NP_001166926.1:p.Ile266Met
NM_001173456.2:c.684C>G	NP_001166927.1:p.Ile228Met