Canonical Allele Identifier: CA2693251264

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359383-C-CTTGTAGTTAAAGAGTTACACCAGCAACAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359384_19359414dup , CM000685.2:g.19359384_19359414dup	GRCh38
NC_000023.10:g.19377502_19377532dup , CM000685.1:g.19377502_19377532dup	GRCh37
NC_000023.9:g.19287423_19287453dup	NCBI36
NG_016781.1:g.20492_20522dup
NG_021184.1:g.160848_160878dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1030-105_1030-75dup	ENSP00000348062.6:n.1030-105_1030-75dup
ENST00000379805.4:c.*701-105_*701-75dup	ENSP00000369133.3:n.*701-105_*701-75dup
ENST00000417819.6:c.1093-105_1093-75dup	ENSP00000404616.2:n.1093-105_1093-75dup
ENST00000423505.6:c.1123-105_1123-75dup	ENSP00000406473.2:n.1123-105_1123-75dup
ENST00000481733.2:n.804-105_804-75dup
ENST00000696704.1:c.*341-105_*341-75dup	ENSP00000512823.1:n.*341-105_*341-75dup
ENST00000696705.1:c.*464-105_*464-75dup	ENSP00000512824.1:n.*464-105_*464-75dup
ENST00000422285.7:c.1009-105_1009-75dup MANE Select	ENSP00000394382.2:n.1009-105_1009-75dup
ENST00000379804.1:c.166-105_166-75dup	ENSP00000369132.1:n.166-105_166-75dup
ENST00000379806.9:c.1123-105_1123-75dup	ENSP00000369134.5:n.1123-105_1123-75dup
ENST00000422285.6:c.1009-105_1009-75dup	ENSP00000394382.2:n.1009-105_1009-75dup
ENST00000478795.1:n.448-105_448-75dup
ENST00000540249.5:c.916-105_916-75dup	ENSP00000440761.1:n.916-105_916-75dup
ENST00000545074.5:c.1030-105_1030-75dup	ENSP00000438550.1:n.1030-105_1030-75dup
NM_000284.3:c.1009-105_1009-75dup	NP_000275.1:n.1009-105_1009-75dup
NM_001173454.1:c.1123-105_1123-75dup	NP_001166925.1:n.1123-105_1123-75dup
NM_001173455.1:c.1030-105_1030-75dup	NP_001166926.1:n.1030-105_1030-75dup
NM_001173456.1:c.916-105_916-75dup	NP_001166927.1:n.916-105_916-75dup
XM_011545531.1:c.1144-105_1144-75dup	XP_011543833.1:n.1144-105_1144-75dup
XM_011545532.1:c.1051-105_1051-75dup	XP_011543834.1:n.1051-105_1051-75dup
XM_017029574.2:c.1030-105_1030-75dup	XP_016885063.1:n.1030-105_1030-75dup
NM_000284.4:c.1009-105_1009-75dup MANE Select	NP_000275.1:n.1009-105_1009-75dup
NM_001173454.2:c.1123-105_1123-75dup	NP_001166925.1:n.1123-105_1123-75dup
NM_001173455.2:c.1030-105_1030-75dup	NP_001166926.1:n.1030-105_1030-75dup
NM_001173456.2:c.916-105_916-75dup	NP_001166927.1:n.916-105_916-75dup