Canonical Allele Identifier: CA1131434459

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063242124
• gnomAD v3: X-19359412-G-GGTCCTCAGCAGAACTCTA
• gnomAD v4: X-19359412-G-GGTCCTCAGCAGAACTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359415_19359432dup , CM000685.2:g.19359415_19359432dup	GRCh38
NC_000023.10:g.19377533_19377550dup , CM000685.1:g.19377533_19377550dup	GRCh37
NC_000023.9:g.19287454_19287471dup	NCBI36
NG_016781.1:g.20523_20540dup
NG_021184.1:g.160832_160849dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1030-74_1030-57dup	ENSP00000348062.6:n.1030-74_1030-57dup
ENST00000379805.4:c.*701-74_*701-57dup	ENSP00000369133.3:n.*701-74_*701-57dup
ENST00000417819.6:c.1093-74_1093-57dup	ENSP00000404616.2:n.1093-74_1093-57dup
ENST00000423505.6:c.1123-74_1123-57dup	ENSP00000406473.2:n.1123-74_1123-57dup
ENST00000481733.2:n.804-74_804-57dup
ENST00000696704.1:c.*341-74_*341-57dup	ENSP00000512823.1:n.*341-74_*341-57dup
ENST00000696705.1:c.*464-74_*464-57dup	ENSP00000512824.1:n.*464-74_*464-57dup
ENST00000422285.7:c.1009-74_1009-57dup MANE Select	ENSP00000394382.2:n.1009-74_1009-57dup
ENST00000379804.1:c.166-74_166-57dup	ENSP00000369132.1:n.166-74_166-57dup
ENST00000379806.9:c.1123-74_1123-57dup	ENSP00000369134.5:n.1123-74_1123-57dup
ENST00000422285.6:c.1009-74_1009-57dup	ENSP00000394382.2:n.1009-74_1009-57dup
ENST00000478795.1:n.448-74_448-57dup
ENST00000540249.5:c.916-74_916-57dup	ENSP00000440761.1:n.916-74_916-57dup
ENST00000545074.5:c.1030-74_1030-57dup	ENSP00000438550.1:n.1030-74_1030-57dup
NM_000284.3:c.1009-74_1009-57dup	NP_000275.1:n.1009-74_1009-57dup
NM_001173454.1:c.1123-74_1123-57dup	NP_001166925.1:n.1123-74_1123-57dup
NM_001173455.1:c.1030-74_1030-57dup	NP_001166926.1:n.1030-74_1030-57dup
NM_001173456.1:c.916-74_916-57dup	NP_001166927.1:n.916-74_916-57dup
XM_011545531.1:c.1144-74_1144-57dup	XP_011543833.1:n.1144-74_1144-57dup
XM_011545532.1:c.1051-74_1051-57dup	XP_011543834.1:n.1051-74_1051-57dup
XM_017029574.2:c.1030-74_1030-57dup	XP_016885063.1:n.1030-74_1030-57dup
NM_000284.4:c.1009-74_1009-57dup MANE Select	NP_000275.1:n.1009-74_1009-57dup
NM_001173454.2:c.1123-74_1123-57dup	NP_001166925.1:n.1123-74_1123-57dup
NM_001173455.2:c.1030-74_1030-57dup	NP_001166926.1:n.1030-74_1030-57dup
NM_001173456.2:c.916-74_916-57dup	NP_001166927.1:n.916-74_916-57dup