Canonical Allele Identifier: CA412396149

Gene: PDHA1

Linked Data

• dbSNP Id: rs1385909126
• gnomAD v2: X-19377075-G-A
• gnomAD v4: X-19358957-G-A
• MyVariant Identifiers: chrX:g.19377075G>A (hg19) ; chrX:g.19358957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358957G>A , CM000685.2:g.19358957G>A	GRCh38
NC_000023.10:g.19377075G>A , CM000685.1:g.19377075G>A	GRCh37
NC_000023.9:g.19286996G>A	NCBI36
NG_016781.1:g.20065G>A
NG_021184.1:g.161305C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.962G>A	ENSP00000348062.6:p.Ser321Asn
ENST00000379805.4:c.*633G>A	ENSP00000369133.3:n.*633G>A
ENST00000417819.6:c.1025G>A	ENSP00000404616.2:p.Ser342Asn
ENST00000423505.6:c.1055G>A	ENSP00000406473.2:p.Ser352Asn
ENST00000481733.2:n.736G>A
ENST00000696704.1:c.*273G>A	ENSP00000512823.1:n.*273G>A
ENST00000696705.1:c.*396G>A	ENSP00000512824.1:n.*396G>A
ENST00000422285.7:c.941G>A MANE Select	ENSP00000394382.2:p.Ser314Asn
ENST00000379804.1:c.98G>A	ENSP00000369132.1:p.Ser33Asn
ENST00000379806.9:c.1055G>A	ENSP00000369134.5:p.Ser352Asn
ENST00000422285.6:c.941G>A	ENSP00000394382.2:p.Ser314Asn
ENST00000478795.1:n.380G>A
ENST00000481733.1:n.369G>A
ENST00000540249.5:c.848G>A	ENSP00000440761.1:p.Ser283Asn
ENST00000545074.5:c.962G>A	ENSP00000438550.1:p.Ser321Asn
NM_000284.3:c.941G>A	NP_000275.1:p.Ser314Asn
NM_001173454.1:c.1055G>A	NP_001166925.1:p.Ser352Asn
NM_001173455.1:c.962G>A	NP_001166926.1:p.Ser321Asn
NM_001173456.1:c.848G>A	NP_001166927.1:p.Ser283Asn
XM_011545531.1:c.1076G>A	XP_011543833.1:p.Ser359Asn
XM_011545532.1:c.983G>A	XP_011543834.1:p.Ser328Asn
XM_017029574.2:c.962G>A	XP_016885063.1:p.Ser321Asn
NM_000284.4:c.941G>A MANE Select	NP_000275.1:p.Ser314Asn
NM_001173454.2:c.1055G>A	NP_001166925.1:p.Ser352Asn
NM_001173455.2:c.962G>A	NP_001166926.1:p.Ser321Asn
NM_001173456.2:c.848G>A	NP_001166927.1:p.Ser283Asn