Canonical Allele Identifier: CA640522740

Gene: PDHA1

Linked Data

• dbSNP Id: rs1436107111
• gnomAD v2: X-19377985-A-AAAT
• gnomAD v3: X-19359867-A-AAAT
• gnomAD v4: X-19359867-A-AAAT
• MyVariant Identifiers: chrX:g.19377985_19377986insAAT (hg19) ; chrX:g.19359867_19359868insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359869_19359871dup , CM000685.2:g.19359869_19359871dup	GRCh38
NC_000023.10:g.19377987_19377989dup , CM000685.1:g.19377987_19377989dup	GRCh37
NC_000023.9:g.19287908_19287910dup	NCBI36
NG_016781.1:g.20977_20979dup
NG_021184.1:g.160392_160394dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*216_*218dup	ENSP00000348062.6:n.*216_*218dup
ENST00000423505.6:c.*216_*218dup	ENSP00000406473.2:n.*216_*218dup
ENST00000696704.1:c.*721_*723dup	ENSP00000512823.1:n.*721_*723dup
ENST00000696705.1:c.*844_*846dup	ENSP00000512824.1:n.*844_*846dup
ENST00000422285.7:c.*216_*218dup MANE Select	ENSP00000394382.2:n.*216_*218dup
ENST00000379806.9:c.*216_*218dup	ENSP00000369134.5:n.*216_*218dup
ENST00000422285.6:c.*216_*218dup	ENSP00000394382.2:n.*216_*218dup
ENST00000540249.5:c.*216_*218dup	ENSP00000440761.1:n.*216_*218dup
ENST00000545074.5:c.*216_*218dup	ENSP00000438550.1:n.*216_*218dup
NM_000284.3:c.*216_*218dup	NP_000275.1:n.*216_*218dup
NM_001173454.1:c.*216_*218dup	NP_001166925.1:n.*216_*218dup
NM_001173455.1:c.*216_*218dup	NP_001166926.1:n.*216_*218dup
NM_001173456.1:c.*216_*218dup	NP_001166927.1:n.*216_*218dup
XM_011545531.1:c.*216_*218dup	XP_011543833.1:n.*216_*218dup
XM_011545532.1:c.*216_*218dup	XP_011543834.1:n.*216_*218dup
NM_000284.4:c.*216_*218dup MANE Select	NP_000275.1:n.*216_*218dup
NM_001173454.2:c.*216_*218dup	NP_001166925.1:n.*216_*218dup
NM_001173455.2:c.*216_*218dup	NP_001166926.1:n.*216_*218dup
NM_001173456.2:c.*216_*218dup	NP_001166927.1:n.*216_*218dup