Canonical Allele Identifier: CA640522733

Gene: PDHA1

Linked Data

• dbSNP Id: rs1297197151
• gnomAD v2: X-19377946-A-C
• gnomAD v3: X-19359828-A-C
• gnomAD v4: X-19359828-A-C
• MyVariant Identifiers: chrX:g.19377946A>C (hg19) ; chrX:g.19359828A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359828A>C , CM000685.2:g.19359828A>C	GRCh38
NC_000023.10:g.19377946A>C , CM000685.1:g.19377946A>C	GRCh37
NC_000023.9:g.19287867A>C	NCBI36
NG_016781.1:g.20936A>C
NG_021184.1:g.160434T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*175A>C	ENSP00000348062.6:n.*175A>C
ENST00000417819.6:c.*175A>C	ENSP00000404616.2:n.*175A>C
ENST00000423505.6:c.*175A>C	ENSP00000406473.2:n.*175A>C
ENST00000481733.2:n.1143A>C
ENST00000696704.1:c.*680A>C	ENSP00000512823.1:n.*680A>C
ENST00000696705.1:c.*803A>C	ENSP00000512824.1:n.*803A>C
ENST00000422285.7:c.*175A>C MANE Select	ENSP00000394382.2:n.*175A>C
ENST00000379804.1:c.*175A>C	ENSP00000369132.1:n.*175A>C
ENST00000379806.9:c.*175A>C	ENSP00000369134.5:n.*175A>C
ENST00000422285.6:c.*175A>C	ENSP00000394382.2:n.*175A>C
ENST00000478795.1:n.787A>C
ENST00000540249.5:c.*175A>C	ENSP00000440761.1:n.*175A>C
ENST00000545074.5:c.*175A>C	ENSP00000438550.1:n.*175A>C
NM_000284.3:c.*175A>C	NP_000275.1:n.*175A>C
NM_001173454.1:c.*175A>C	NP_001166925.1:n.*175A>C
NM_001173455.1:c.*175A>C	NP_001166926.1:n.*175A>C
NM_001173456.1:c.*175A>C	NP_001166927.1:n.*175A>C
XM_011545531.1:c.*175A>C	XP_011543833.1:n.*175A>C
XM_011545532.1:c.*175A>C	XP_011543834.1:n.*175A>C
XM_017029574.2:c.*175A>C	XP_016885063.1:n.*175A>C
NM_000284.4:c.*175A>C MANE Select	NP_000275.1:n.*175A>C
NM_001173454.2:c.*175A>C	NP_001166925.1:n.*175A>C
NM_001173455.2:c.*175A>C	NP_001166926.1:n.*175A>C
NM_001173456.2:c.*175A>C	NP_001166927.1:n.*175A>C