Canonical Allele Identifier: CA873743337

Gene: PDHA1

Linked Data

• dbSNP Id: rs1451081625
• gnomAD v3: X-19359872-G-GTA
• gnomAD v4: X-19359872-G-GTA
• MyVariant Identifiers: chrX:g.19377990_19377991insTA (hg19) ; chrX:g.19359872_19359873insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359875_19359876dup , CM000685.2:g.19359875_19359876dup	GRCh38
NC_000023.10:g.19377993_19377994dup , CM000685.1:g.19377993_19377994dup	GRCh37
NC_000023.9:g.19287914_19287915dup	NCBI36
NG_016781.1:g.20983_20984dup
NG_021184.1:g.160388_160389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*222_*223dup	ENSP00000348062.6:n.*222_*223dup
ENST00000423505.6:c.*222_*223dup	ENSP00000406473.2:n.*222_*223dup
ENST00000696704.1:c.*727_*728dup	ENSP00000512823.1:n.*727_*728dup
ENST00000696705.1:c.*850_*851dup	ENSP00000512824.1:n.*850_*851dup
ENST00000422285.7:c.*222_*223dup MANE Select	ENSP00000394382.2:n.*222_*223dup
ENST00000379806.9:c.*222_*223dup	ENSP00000369134.5:n.*222_*223dup
ENST00000422285.6:c.*222_*223dup	ENSP00000394382.2:n.*222_*223dup
ENST00000540249.5:c.*222_*223dup	ENSP00000440761.1:n.*222_*223dup
ENST00000545074.5:c.*222_*223dup	ENSP00000438550.1:n.*222_*223dup
NM_000284.3:c.*222_*223dup	NP_000275.1:n.*222_*223dup
NM_001173454.1:c.*222_*223dup	NP_001166925.1:n.*222_*223dup
NM_001173455.1:c.*222_*223dup	NP_001166926.1:n.*222_*223dup
NM_001173456.1:c.*222_*223dup	NP_001166927.1:n.*222_*223dup
XM_011545531.1:c.*222_*223dup	XP_011543833.1:n.*222_*223dup
XM_011545532.1:c.*222_*223dup	XP_011543834.1:n.*222_*223dup
NM_000284.4:c.*222_*223dup MANE Select	NP_000275.1:n.*222_*223dup
NM_001173454.2:c.*222_*223dup	NP_001166925.1:n.*222_*223dup
NM_001173455.2:c.*222_*223dup	NP_001166926.1:n.*222_*223dup
NM_001173456.2:c.*222_*223dup	NP_001166927.1:n.*222_*223dup