Canonical Allele Identifier: CA412397183

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 991386
• ClinVar RCV Id: RCV001279595
• dbSNP Id: rs2063247814
• gnomAD v4: X-19359622-A-G
• MyVariant Identifiers: chrX:g.19377740A>G (hg19) ; chrX:g.19359622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359622A>G , CM000685.2:g.19359622A>G	GRCh38
NC_000023.10:g.19377740A>G , CM000685.1:g.19377740A>G	GRCh37
NC_000023.9:g.19287661A>G	NCBI36
NG_016781.1:g.20730A>G
NG_021184.1:g.160640T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1163A>G	ENSP00000348062.6:p.Asn388Ser
ENST00000379805.4:c.*834A>G	ENSP00000369133.3:n.*834A>G
ENST00000417819.6:c.1226A>G	ENSP00000404616.2:p.Asn409Ser
ENST00000423505.6:c.1256A>G	ENSP00000406473.2:p.Asn419Ser
ENST00000481733.2:n.937A>G
ENST00000696704.1:c.*474A>G	ENSP00000512823.1:n.*474A>G
ENST00000696705.1:c.*597A>G	ENSP00000512824.1:n.*597A>G
ENST00000422285.7:c.1142A>G MANE Select	ENSP00000394382.2:p.Asn381Ser
ENST00000379804.1:c.299A>G	ENSP00000369132.1:p.Asn100Ser
ENST00000379806.9:c.1256A>G	ENSP00000369134.5:p.Asn419Ser
ENST00000422285.6:c.1142A>G	ENSP00000394382.2:p.Asn381Ser
ENST00000478795.1:n.581A>G
ENST00000540249.5:c.1049A>G	ENSP00000440761.1:p.Asn350Ser
ENST00000545074.5:c.1163A>G	ENSP00000438550.1:p.Asn388Ser
NM_000284.3:c.1142A>G	NP_000275.1:p.Asn381Ser
NM_001173454.1:c.1256A>G	NP_001166925.1:p.Asn419Ser
NM_001173455.1:c.1163A>G	NP_001166926.1:p.Asn388Ser
NM_001173456.1:c.1049A>G	NP_001166927.1:p.Asn350Ser
XM_011545531.1:c.1277A>G	XP_011543833.1:p.Asn426Ser
XM_011545532.1:c.1184A>G	XP_011543834.1:p.Asn395Ser
XM_017029574.2:c.1163A>G	XP_016885063.1:p.Asn388Ser
NM_000284.4:c.1142A>G MANE Select	NP_000275.1:p.Asn381Ser
NM_001173454.2:c.1256A>G	NP_001166925.1:p.Asn419Ser
NM_001173455.2:c.1163A>G	NP_001166926.1:p.Asn388Ser
NM_001173456.2:c.1049A>G	NP_001166927.1:p.Asn350Ser