Canonical Allele Identifier: CA10363264

Gene: PDHA1

Linked Data

• dbSNP Id: rs768167537
• ExAC: X:19377902 G / A
• gnomAD v2: X-19377902-G-A
• gnomAD v4: X-19359784-G-A
• MyVariant Identifiers: chrX:g.19377902G>A (hg19) ; chrX:g.19359784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359784G>A , CM000685.2:g.19359784G>A	GRCh38
NC_000023.10:g.19377902G>A , CM000685.1:g.19377902G>A	GRCh37
NC_000023.9:g.19287823G>A	NCBI36
NG_016781.1:g.20892G>A
NG_021184.1:g.160478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*131G>A	ENSP00000348062.6:n.*131G>A
ENST00000379805.4:c.*996G>A	ENSP00000369133.3:n.*996G>A
ENST00000417819.6:c.*131G>A	ENSP00000404616.2:n.*131G>A
ENST00000423505.6:c.*131G>A	ENSP00000406473.2:n.*131G>A
ENST00000481733.2:n.1099G>A
ENST00000696704.1:c.*636G>A	ENSP00000512823.1:n.*636G>A
ENST00000696705.1:c.*759G>A	ENSP00000512824.1:n.*759G>A
ENST00000422285.7:c.*131G>A MANE Select	ENSP00000394382.2:n.*131G>A
ENST00000379804.1:c.*131G>A	ENSP00000369132.1:n.*131G>A
ENST00000379806.9:c.*131G>A	ENSP00000369134.5:n.*131G>A
ENST00000422285.6:c.*131G>A	ENSP00000394382.2:n.*131G>A
ENST00000478795.1:n.743G>A
ENST00000540249.5:c.*131G>A	ENSP00000440761.1:n.*131G>A
ENST00000545074.5:c.*131G>A	ENSP00000438550.1:n.*131G>A
NM_000284.3:c.*131G>A	NP_000275.1:n.*131G>A
NM_001173454.1:c.*131G>A	NP_001166925.1:n.*131G>A
NM_001173455.1:c.*131G>A	NP_001166926.1:n.*131G>A
NM_001173456.1:c.*131G>A	NP_001166927.1:n.*131G>A
XM_011545531.1:c.*131G>A	XP_011543833.1:n.*131G>A
XM_011545532.1:c.*131G>A	XP_011543834.1:n.*131G>A
XM_017029574.2:c.*131G>A	XP_016885063.1:n.*131G>A
NM_000284.4:c.*131G>A MANE Select	NP_000275.1:n.*131G>A
NM_001173454.2:c.*131G>A	NP_001166925.1:n.*131G>A
NM_001173455.2:c.*131G>A	NP_001166926.1:n.*131G>A
NM_001173456.2:c.*131G>A	NP_001166927.1:n.*131G>A