Canonical Allele Identifier: CA1139667326

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 984935
• ClinVar RCV Id: RCV001265577
• dbSNP Id: rs2063232292

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358934_19358943dup , CM000685.2:g.19358934_19358943dup	GRCh38
NC_000023.10:g.19377052_19377061dup , CM000685.1:g.19377052_19377061dup	GRCh37
NC_000023.9:g.19286973_19286982dup	NCBI36
NG_016781.1:g.20042_20051dup
NG_021184.1:g.161320_161329dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.939_948dup	ENSP00000348062.6:p.Val317AsnfsTer7
ENST00000379805.4:c.*610_*619dup	ENSP00000369133.3:n.*610_*619dup
ENST00000417819.6:c.1002_1011dup	ENSP00000404616.2:p.Val338AsnfsTer7
ENST00000423505.6:c.1032_1041dup	ENSP00000406473.2:p.Val348AsnfsTer7
ENST00000481733.2:n.713_722dup
ENST00000696704.1:c.*250_*259dup	ENSP00000512823.1:n.*250_*259dup
ENST00000696705.1:c.*373_*382dup	ENSP00000512824.1:n.*373_*382dup
ENST00000422285.7:c.918_927dup MANE Select	ENSP00000394382.2:p.Val310AsnfsTer7
ENST00000379804.1:c.75_84dup	ENSP00000369132.1:p.Val29AsnfsTer7
ENST00000379806.9:c.1032_1041dup	ENSP00000369134.5:p.Val348AsnfsTer7
ENST00000422285.6:c.918_927dup	ENSP00000394382.2:p.Val310AsnfsTer7
ENST00000478795.1:n.357_366dup
ENST00000481733.1:n.346_355dup
ENST00000540249.5:c.825_834dup	ENSP00000440761.1:p.Val279AsnfsTer7
ENST00000545074.5:c.939_948dup	ENSP00000438550.1:p.Val317AsnfsTer7
NM_000284.3:c.918_927dup	NP_000275.1:p.Val310AsnfsTer7
NM_001173454.1:c.1032_1041dup	NP_001166925.1:p.Val348AsnfsTer7
NM_001173455.1:c.939_948dup	NP_001166926.1:p.Val317AsnfsTer7
NM_001173456.1:c.825_834dup	NP_001166927.1:p.Val279AsnfsTer7
XM_011545531.1:c.1053_1062dup	XP_011543833.1:p.Val355AsnfsTer7
XM_011545532.1:c.960_969dup	XP_011543834.1:p.Val324AsnfsTer7
XM_017029574.2:c.939_948dup	XP_016885063.1:p.Val317AsnfsTer7
NM_000284.4:c.918_927dup MANE Select	NP_000275.1:p.Val310AsnfsTer7
NM_001173454.2:c.1032_1041dup	NP_001166925.1:p.Val348AsnfsTer7
NM_001173455.2:c.939_948dup	NP_001166926.1:p.Val317AsnfsTer7
NM_001173456.2:c.825_834dup	NP_001166927.1:p.Val279AsnfsTer7