Canonical Allele Identifier: CA412395269

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375827C>G (hg19) ; chrX:g.19357709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357709C>G , CM000685.2:g.19357709C>G	GRCh38
NC_000023.10:g.19375827C>G , CM000685.1:g.19375827C>G	GRCh37
NC_000023.9:g.19285748C>G	NCBI36
NG_016781.1:g.18817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.910C>G	ENSP00000348062.6:p.Pro304Ala
ENST00000379805.4:c.*581C>G	ENSP00000369133.3:n.*581C>G
ENST00000417819.6:c.973C>G	ENSP00000404616.2:p.Pro325Ala
ENST00000423505.6:c.1003C>G	ENSP00000406473.2:p.Pro335Ala
ENST00000481733.2:n.684C>G
ENST00000696704.1:c.*221C>G	ENSP00000512823.1:n.*221C>G
ENST00000696705.1:c.*344C>G	ENSP00000512824.1:n.*344C>G
ENST00000422285.7:c.889C>G MANE Select	ENSP00000394382.2:p.Pro297Ala
ENST00000379804.1:c.46C>G	ENSP00000369132.1:p.Pro16Ala
ENST00000379806.9:c.1003C>G	ENSP00000369134.5:p.Pro335Ala
ENST00000422285.6:c.889C>G	ENSP00000394382.2:p.Pro297Ala
ENST00000478795.1:n.328C>G
ENST00000481733.1:n.317C>G
ENST00000540249.5:c.796C>G	ENSP00000440761.1:p.Pro266Ala
ENST00000545074.5:c.910C>G	ENSP00000438550.1:p.Pro304Ala
NM_000284.3:c.889C>G	NP_000275.1:p.Pro297Ala
NM_001173454.1:c.1003C>G	NP_001166925.1:p.Pro335Ala
NM_001173455.1:c.910C>G	NP_001166926.1:p.Pro304Ala
NM_001173456.1:c.796C>G	NP_001166927.1:p.Pro266Ala
XM_011545531.1:c.1024C>G	XP_011543833.1:p.Pro342Ala
XM_011545532.1:c.931C>G	XP_011543834.1:p.Pro311Ala
XM_017029574.2:c.910C>G	XP_016885063.1:p.Pro304Ala
NM_000284.4:c.889C>G MANE Select	NP_000275.1:p.Pro297Ala
NM_001173454.2:c.1003C>G	NP_001166925.1:p.Pro335Ala
NM_001173455.2:c.910C>G	NP_001166926.1:p.Pro304Ala
NM_001173456.2:c.796C>G	NP_001166927.1:p.Pro266Ala