Canonical Allele Identifier: CA2418225774

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063255600
• gnomAD v3: X-19359824-T-TAAAAGATGAATTATTG
• gnomAD v4: X-19359824-T-TAAAAGATGAATTATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359826_19359841dup , CM000685.2:g.19359826_19359841dup	GRCh38
NC_000023.10:g.19377944_19377959dup , CM000685.1:g.19377944_19377959dup	GRCh37
NC_000023.9:g.19287865_19287880dup	NCBI36
NG_016781.1:g.20934_20949dup
NG_021184.1:g.160422_160437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*173_*188dup	ENSP00000348062.6:n.*173_*188dup
ENST00000423505.6:c.*173_*188dup	ENSP00000406473.2:n.*173_*188dup
ENST00000481733.2:n.1141_1156dup
ENST00000696704.1:c.*678_*693dup	ENSP00000512823.1:n.*678_*693dup
ENST00000696705.1:c.*801_*816dup	ENSP00000512824.1:n.*801_*816dup
ENST00000422285.7:c.*173_*188dup MANE Select	ENSP00000394382.2:n.*173_*188dup
ENST00000379804.1:c.*173_*188dup	ENSP00000369132.1:n.*173_*188dup
ENST00000379806.9:c.*173_*188dup	ENSP00000369134.5:n.*173_*188dup
ENST00000422285.6:c.*173_*188dup	ENSP00000394382.2:n.*173_*188dup
ENST00000540249.5:c.*173_*188dup	ENSP00000440761.1:n.*173_*188dup
ENST00000545074.5:c.*173_*188dup	ENSP00000438550.1:n.*173_*188dup
NM_000284.3:c.*173_*188dup	NP_000275.1:n.*173_*188dup
NM_001173454.1:c.*173_*188dup	NP_001166925.1:n.*173_*188dup
NM_001173455.1:c.*173_*188dup	NP_001166926.1:n.*173_*188dup
NM_001173456.1:c.*173_*188dup	NP_001166927.1:n.*173_*188dup
XM_011545531.1:c.*173_*188dup	XP_011543833.1:n.*173_*188dup
XM_011545532.1:c.*173_*188dup	XP_011543834.1:n.*173_*188dup
XM_017029574.2:c.*173_*188dup	XP_016885063.1:n.*173_*188dup
NM_000284.4:c.*173_*188dup MANE Select	NP_000275.1:n.*173_*188dup
NM_001173454.2:c.*173_*188dup	NP_001166925.1:n.*173_*188dup
NM_001173455.2:c.*173_*188dup	NP_001166926.1:n.*173_*188dup
NM_001173456.2:c.*173_*188dup	NP_001166927.1:n.*173_*188dup