Canonical Allele Identifier: CA2418225738

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063254239

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359788_19359797dup , CM000685.2:g.19359788_19359797dup	GRCh38
NC_000023.10:g.19377906_19377915dup , CM000685.1:g.19377906_19377915dup	GRCh37
NC_000023.9:g.19287827_19287836dup	NCBI36
NG_016781.1:g.20896_20905dup
NG_021184.1:g.160465_160474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*135_*144dup	ENSP00000348062.6:n.*135_*144dup
ENST00000379805.4:c.*1000_*1009dup	ENSP00000369133.3:n.*1000_*1009dup
ENST00000417819.6:c.*135_*144dup	ENSP00000404616.2:n.*135_*144dup
ENST00000423505.6:c.*135_*144dup	ENSP00000406473.2:n.*135_*144dup
ENST00000481733.2:n.1103_1112dup
ENST00000696704.1:c.*640_*649dup	ENSP00000512823.1:n.*640_*649dup
ENST00000696705.1:c.*763_*772dup	ENSP00000512824.1:n.*763_*772dup
ENST00000422285.7:c.*135_*144dup MANE Select	ENSP00000394382.2:n.*135_*144dup
ENST00000379804.1:c.*135_*144dup	ENSP00000369132.1:n.*135_*144dup
ENST00000379806.9:c.*135_*144dup	ENSP00000369134.5:n.*135_*144dup
ENST00000422285.6:c.*135_*144dup	ENSP00000394382.2:n.*135_*144dup
ENST00000478795.1:n.747_756dup
ENST00000540249.5:c.*135_*144dup	ENSP00000440761.1:n.*135_*144dup
ENST00000545074.5:c.*135_*144dup	ENSP00000438550.1:n.*135_*144dup
NM_000284.3:c.*135_*144dup	NP_000275.1:n.*135_*144dup
NM_001173454.1:c.*135_*144dup	NP_001166925.1:n.*135_*144dup
NM_001173455.1:c.*135_*144dup	NP_001166926.1:n.*135_*144dup
NM_001173456.1:c.*135_*144dup	NP_001166927.1:n.*135_*144dup
XM_011545531.1:c.*135_*144dup	XP_011543833.1:n.*135_*144dup
XM_011545532.1:c.*135_*144dup	XP_011543834.1:n.*135_*144dup
XM_017029574.2:c.*135_*144dup	XP_016885063.1:n.*135_*144dup
NM_000284.4:c.*135_*144dup MANE Select	NP_000275.1:n.*135_*144dup
NM_001173454.2:c.*135_*144dup	NP_001166925.1:n.*135_*144dup
NM_001173455.2:c.*135_*144dup	NP_001166926.1:n.*135_*144dup
NM_001173456.2:c.*135_*144dup	NP_001166927.1:n.*135_*144dup