Canonical Allele Identifier: CA873743393

Gene: PDHA1

Linked Data

• dbSNP Id: rs1218294288
• gnomAD v3: X-19359967-AT-A
• gnomAD v4: X-19359967-AT-A
• MyVariant Identifiers: chrX:g.19378086del (hg19) ; chrX:g.19359968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359969del , CM000685.2:g.19359969del	GRCh38
NC_000023.10:g.19378087del , CM000685.1:g.19378087del	GRCh37
NC_000023.9:g.19288008del	NCBI36
NG_016781.1:g.21077del
NG_021184.1:g.160294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*316del	ENSP00000348062.6:n.*316del
ENST00000423505.6:c.*316del	ENSP00000406473.2:n.*316del
ENST00000696704.1:c.*821del	ENSP00000512823.1:n.*821del
ENST00000696705.1:c.*944del	ENSP00000512824.1:n.*944del
ENST00000422285.7:c.*316del MANE Select	ENSP00000394382.2:n.*316del
ENST00000379806.9:c.*316del	ENSP00000369134.5:n.*316del
ENST00000422285.6:c.*316del	ENSP00000394382.2:n.*316del
ENST00000540249.5:c.*316del	ENSP00000440761.1:n.*316del
ENST00000545074.5:c.*316del	ENSP00000438550.1:n.*316del
NM_000284.3:c.*316del	NP_000275.1:n.*316del
NM_001173454.1:c.*316del	NP_001166925.1:n.*316del
NM_001173455.1:c.*316del	NP_001166926.1:n.*316del
NM_001173456.1:c.*316del	NP_001166927.1:n.*316del
XM_011545531.1:c.*316del	XP_011543833.1:n.*316del
XM_011545532.1:c.*316del	XP_011543834.1:n.*316del
NM_000284.4:c.*316del MANE Select	NP_000275.1:n.*316del
NM_001173454.2:c.*316del	NP_001166925.1:n.*316del
NM_001173455.2:c.*316del	NP_001166926.1:n.*316del
NM_001173456.2:c.*316del	NP_001166927.1:n.*316del