Canonical Allele Identifier: CA1131434482

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063243033
• gnomAD v3: X-19359452-C-CATTCTAAAACCTTTTACACTGTTACCT
• gnomAD v4: X-19359452-C-CATTCTAAAACCTTTTACACTGTTACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359454_19359480dup , CM000685.2:g.19359454_19359480dup	GRCh38
NC_000023.10:g.19377572_19377598dup , CM000685.1:g.19377572_19377598dup	GRCh37
NC_000023.9:g.19287493_19287519dup	NCBI36
NG_016781.1:g.20562_20588dup
NG_021184.1:g.160783_160809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1030-35_1030-9dup	ENSP00000348062.6:n.1030-35_1030-9dup
ENST00000379805.4:c.*701-35_*701-9dup	ENSP00000369133.3:n.*701-35_*701-9dup
ENST00000417819.6:c.1093-35_1093-9dup	ENSP00000404616.2:n.1093-35_1093-9dup
ENST00000423505.6:c.1123-35_1123-9dup	ENSP00000406473.2:n.1123-35_1123-9dup
ENST00000481733.2:n.804-35_804-9dup
ENST00000696704.1:c.*341-35_*341-9dup	ENSP00000512823.1:n.*341-35_*341-9dup
ENST00000696705.1:c.*464-35_*464-9dup	ENSP00000512824.1:n.*464-35_*464-9dup
ENST00000422285.7:c.1009-35_1009-9dup MANE Select	ENSP00000394382.2:n.1009-35_1009-9dup
ENST00000379804.1:c.166-35_166-9dup	ENSP00000369132.1:n.166-35_166-9dup
ENST00000379806.9:c.1123-35_1123-9dup	ENSP00000369134.5:n.1123-35_1123-9dup
ENST00000422285.6:c.1009-35_1009-9dup	ENSP00000394382.2:n.1009-35_1009-9dup
ENST00000478795.1:n.448-35_448-9dup
ENST00000540249.5:c.916-35_916-9dup	ENSP00000440761.1:n.916-35_916-9dup
ENST00000545074.5:c.1030-35_1030-9dup	ENSP00000438550.1:n.1030-35_1030-9dup
NM_000284.3:c.1009-35_1009-9dup	NP_000275.1:n.1009-35_1009-9dup
NM_001173454.1:c.1123-35_1123-9dup	NP_001166925.1:n.1123-35_1123-9dup
NM_001173455.1:c.1030-35_1030-9dup	NP_001166926.1:n.1030-35_1030-9dup
NM_001173456.1:c.916-35_916-9dup	NP_001166927.1:n.916-35_916-9dup
XM_011545531.1:c.1144-35_1144-9dup	XP_011543833.1:n.1144-35_1144-9dup
XM_011545532.1:c.1051-35_1051-9dup	XP_011543834.1:n.1051-35_1051-9dup
XM_017029574.2:c.1030-35_1030-9dup	XP_016885063.1:n.1030-35_1030-9dup
NM_000284.4:c.1009-35_1009-9dup MANE Select	NP_000275.1:n.1009-35_1009-9dup
NM_001173454.2:c.1123-35_1123-9dup	NP_001166925.1:n.1123-35_1123-9dup
NM_001173455.2:c.1030-35_1030-9dup	NP_001166926.1:n.1030-35_1030-9dup
NM_001173456.2:c.916-35_916-9dup	NP_001166927.1:n.916-35_916-9dup