Canonical Allele Identifier: CA2693251300

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359434-G-GGTACCTAAGCTGCTGTTCATTCTAAAACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359435_19359464dup , CM000685.2:g.19359435_19359464dup	GRCh38
NC_000023.10:g.19377553_19377582dup , CM000685.1:g.19377553_19377582dup	GRCh37
NC_000023.9:g.19287474_19287503dup	NCBI36
NG_016781.1:g.20543_20572dup
NG_021184.1:g.160798_160827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1030-54_1030-25dup	ENSP00000348062.6:n.1030-54_1030-25dup
ENST00000379805.4:c.*701-54_*701-25dup	ENSP00000369133.3:n.*701-54_*701-25dup
ENST00000417819.6:c.1093-54_1093-25dup	ENSP00000404616.2:n.1093-54_1093-25dup
ENST00000423505.6:c.1123-54_1123-25dup	ENSP00000406473.2:n.1123-54_1123-25dup
ENST00000481733.2:n.804-54_804-25dup
ENST00000696704.1:c.*341-54_*341-25dup	ENSP00000512823.1:n.*341-54_*341-25dup
ENST00000696705.1:c.*464-54_*464-25dup	ENSP00000512824.1:n.*464-54_*464-25dup
ENST00000422285.7:c.1009-54_1009-25dup MANE Select	ENSP00000394382.2:n.1009-54_1009-25dup
ENST00000379804.1:c.166-54_166-25dup	ENSP00000369132.1:n.166-54_166-25dup
ENST00000379806.9:c.1123-54_1123-25dup	ENSP00000369134.5:n.1123-54_1123-25dup
ENST00000422285.6:c.1009-54_1009-25dup	ENSP00000394382.2:n.1009-54_1009-25dup
ENST00000478795.1:n.448-54_448-25dup
ENST00000540249.5:c.916-54_916-25dup	ENSP00000440761.1:n.916-54_916-25dup
ENST00000545074.5:c.1030-54_1030-25dup	ENSP00000438550.1:n.1030-54_1030-25dup
NM_000284.3:c.1009-54_1009-25dup	NP_000275.1:n.1009-54_1009-25dup
NM_001173454.1:c.1123-54_1123-25dup	NP_001166925.1:n.1123-54_1123-25dup
NM_001173455.1:c.1030-54_1030-25dup	NP_001166926.1:n.1030-54_1030-25dup
NM_001173456.1:c.916-54_916-25dup	NP_001166927.1:n.916-54_916-25dup
XM_011545531.1:c.1144-54_1144-25dup	XP_011543833.1:n.1144-54_1144-25dup
XM_011545532.1:c.1051-54_1051-25dup	XP_011543834.1:n.1051-54_1051-25dup
XM_017029574.2:c.1030-54_1030-25dup	XP_016885063.1:n.1030-54_1030-25dup
NM_000284.4:c.1009-54_1009-25dup MANE Select	NP_000275.1:n.1009-54_1009-25dup
NM_001173454.2:c.1123-54_1123-25dup	NP_001166925.1:n.1123-54_1123-25dup
NM_001173455.2:c.1030-54_1030-25dup	NP_001166926.1:n.1030-54_1030-25dup
NM_001173456.2:c.916-54_916-25dup	NP_001166927.1:n.916-54_916-25dup