Canonical Allele Identifier: CA640522728

Gene: PDHA1

Linked Data

• dbSNP Id: rs1328924898
• gnomAD v2: X-19377927-T-TAAAAAA
• gnomAD v3: X-19359809-T-TAAAAAA
• gnomAD v4: X-19359809-T-TAAAAAA
• MyVariant Identifiers: chrX:g.19377927_19377928insAAAAAA (hg19) ; chrX:g.19359809_19359810insAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359809_19359810insAAAAAA , CM000685.2:g.19359809_19359810insAAAAAA	GRCh38
NC_000023.10:g.19377927_19377928insAAAAAA , CM000685.1:g.19377927_19377928insAAAAAA	GRCh37
NC_000023.9:g.19287848_19287849insAAAAAA	NCBI36
NG_016781.1:g.20917_20918insAAAAAA
NG_021184.1:g.160452_160453insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*156_*157insAAAAAA	ENSP00000348062.6:n.*156_*157insAAAAAA
ENST00000417819.6:c.*156_*157insAAAAAA	ENSP00000404616.2:n.*156_*157insAAAAAA
ENST00000423505.6:c.*156_*157insAAAAAA	ENSP00000406473.2:n.*156_*157insAAAAAA
ENST00000481733.2:n.1124_1125insAAAAAA
ENST00000696704.1:c.*661_*662insAAAAAA	ENSP00000512823.1:n.*661_*662insAAAAAA
ENST00000696705.1:c.*784_*785insAAAAAA	ENSP00000512824.1:n.*784_*785insAAAAAA
ENST00000422285.7:c.*156_*157insAAAAAA MANE Select	ENSP00000394382.2:n.*156_*157insAAAAAA
ENST00000379804.1:c.*156_*157insAAAAAA	ENSP00000369132.1:n.*156_*157insAAAAAA
ENST00000379806.9:c.*156_*157insAAAAAA	ENSP00000369134.5:n.*156_*157insAAAAAA
ENST00000422285.6:c.*156_*157insAAAAAA	ENSP00000394382.2:n.*156_*157insAAAAAA
ENST00000478795.1:n.768_769insAAAAAA
ENST00000540249.5:c.*156_*157insAAAAAA	ENSP00000440761.1:n.*156_*157insAAAAAA
ENST00000545074.5:c.*156_*157insAAAAAA	ENSP00000438550.1:n.*156_*157insAAAAAA
NM_000284.3:c.*156_*157insAAAAAA	NP_000275.1:n.*156_*157insAAAAAA
NM_001173454.1:c.*156_*157insAAAAAA	NP_001166925.1:n.*156_*157insAAAAAA
NM_001173455.1:c.*156_*157insAAAAAA	NP_001166926.1:n.*156_*157insAAAAAA
NM_001173456.1:c.*156_*157insAAAAAA	NP_001166927.1:n.*156_*157insAAAAAA
XM_011545531.1:c.*156_*157insAAAAAA	XP_011543833.1:n.*156_*157insAAAAAA
XM_011545532.1:c.*156_*157insAAAAAA	XP_011543834.1:n.*156_*157insAAAAAA
XM_017029574.2:c.*156_*157insAAAAAA	XP_016885063.1:n.*156_*157insAAAAAA
NM_000284.4:c.*156_*157insAAAAAA MANE Select	NP_000275.1:n.*156_*157insAAAAAA
NM_001173454.2:c.*156_*157insAAAAAA	NP_001166925.1:n.*156_*157insAAAAAA
NM_001173455.2:c.*156_*157insAAAAAA	NP_001166926.1:n.*156_*157insAAAAAA
NM_001173456.2:c.*156_*157insAAAAAA	NP_001166927.1:n.*156_*157insAAAAAA