Canonical Allele Identifier: CA1131434788

Gene: PDHA1

Linked Data

• gnomAD v3: X-19359788-A-T
• gnomAD v4: X-19359788-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359788A>T , CM000685.2:g.19359788A>T	GRCh38
NC_000023.10:g.19377906A>T , CM000685.1:g.19377906A>T	GRCh37
NC_000023.9:g.19287827A>T	NCBI36
NG_016781.1:g.20896A>T
NG_021184.1:g.160474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*135A>T	ENSP00000348062.6:n.*135A>T
ENST00000379805.4:c.*1000A>T	ENSP00000369133.3:n.*1000A>T
ENST00000417819.6:c.*135A>T	ENSP00000404616.2:n.*135A>T
ENST00000423505.6:c.*135A>T	ENSP00000406473.2:n.*135A>T
ENST00000481733.2:n.1103A>T
ENST00000696704.1:c.*640A>T	ENSP00000512823.1:n.*640A>T
ENST00000696705.1:c.*763A>T	ENSP00000512824.1:n.*763A>T
ENST00000422285.7:c.*135A>T MANE Select	ENSP00000394382.2:n.*135A>T
ENST00000379804.1:c.*135A>T	ENSP00000369132.1:n.*135A>T
ENST00000379806.9:c.*135A>T	ENSP00000369134.5:n.*135A>T
ENST00000422285.6:c.*135A>T	ENSP00000394382.2:n.*135A>T
ENST00000478795.1:n.747A>T
ENST00000540249.5:c.*135A>T	ENSP00000440761.1:n.*135A>T
ENST00000545074.5:c.*135A>T	ENSP00000438550.1:n.*135A>T
NM_000284.3:c.*135A>T	NP_000275.1:n.*135A>T
NM_001173454.1:c.*135A>T	NP_001166925.1:n.*135A>T
NM_001173455.1:c.*135A>T	NP_001166926.1:n.*135A>T
NM_001173456.1:c.*135A>T	NP_001166927.1:n.*135A>T
XM_011545531.1:c.*135A>T	XP_011543833.1:n.*135A>T
XM_011545532.1:c.*135A>T	XP_011543834.1:n.*135A>T
XM_017029574.2:c.*135A>T	XP_016885063.1:n.*135A>T
NM_000284.4:c.*135A>T MANE Select	NP_000275.1:n.*135A>T
NM_001173454.2:c.*135A>T	NP_001166925.1:n.*135A>T
NM_001173455.2:c.*135A>T	NP_001166926.1:n.*135A>T
NM_001173456.2:c.*135A>T	NP_001166927.1:n.*135A>T