Canonical Allele Identifier: CA640522731

Gene: PDHA1

Linked Data

• dbSNP Id: rs1439430142
• gnomAD v2: X-19377938-G-T
• gnomAD v3: X-19359820-G-T
• gnomAD v4: X-19359820-G-T
• MyVariant Identifiers: chrX:g.19377938G>T (hg19) ; chrX:g.19359820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359820G>T , CM000685.2:g.19359820G>T	GRCh38
NC_000023.10:g.19377938G>T , CM000685.1:g.19377938G>T	GRCh37
NC_000023.9:g.19287859G>T	NCBI36
NG_016781.1:g.20928G>T
NG_021184.1:g.160442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*167G>T	ENSP00000348062.6:n.*167G>T
ENST00000417819.6:c.*167G>T	ENSP00000404616.2:n.*167G>T
ENST00000423505.6:c.*167G>T	ENSP00000406473.2:n.*167G>T
ENST00000481733.2:n.1135G>T
ENST00000696704.1:c.*672G>T	ENSP00000512823.1:n.*672G>T
ENST00000696705.1:c.*795G>T	ENSP00000512824.1:n.*795G>T
ENST00000422285.7:c.*167G>T MANE Select	ENSP00000394382.2:n.*167G>T
ENST00000379804.1:c.*167G>T	ENSP00000369132.1:n.*167G>T
ENST00000379806.9:c.*167G>T	ENSP00000369134.5:n.*167G>T
ENST00000422285.6:c.*167G>T	ENSP00000394382.2:n.*167G>T
ENST00000478795.1:n.779G>T
ENST00000540249.5:c.*167G>T	ENSP00000440761.1:n.*167G>T
ENST00000545074.5:c.*167G>T	ENSP00000438550.1:n.*167G>T
NM_000284.3:c.*167G>T	NP_000275.1:n.*167G>T
NM_001173454.1:c.*167G>T	NP_001166925.1:n.*167G>T
NM_001173455.1:c.*167G>T	NP_001166926.1:n.*167G>T
NM_001173456.1:c.*167G>T	NP_001166927.1:n.*167G>T
XM_011545531.1:c.*167G>T	XP_011543833.1:n.*167G>T
XM_011545532.1:c.*167G>T	XP_011543834.1:n.*167G>T
XM_017029574.2:c.*167G>T	XP_016885063.1:n.*167G>T
NM_000284.4:c.*167G>T MANE Select	NP_000275.1:n.*167G>T
NM_001173454.2:c.*167G>T	NP_001166925.1:n.*167G>T
NM_001173455.2:c.*167G>T	NP_001166926.1:n.*167G>T
NM_001173456.2:c.*167G>T	NP_001166927.1:n.*167G>T