Canonical Allele Identifier: CA1131434039

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063223419
• gnomAD v3: X-19358572-C-T
• gnomAD v4: X-19358572-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358572C>T , CM000685.2:g.19358572C>T	GRCh38
NC_000023.10:g.19376690C>T , CM000685.1:g.19376690C>T	GRCh37
NC_000023.9:g.19286611C>T	NCBI36
NG_016781.1:g.19680C>T
NG_021184.1:g.161690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-344C>T	ENSP00000348062.6:n.921-344C>T
ENST00000379805.4:c.*592-344C>T	ENSP00000369133.3:n.*592-344C>T
ENST00000417819.6:c.984-344C>T	ENSP00000404616.2:n.984-344C>T
ENST00000423505.6:c.1014-344C>T	ENSP00000406473.2:n.1014-344C>T
ENST00000481733.2:n.695-344C>T
ENST00000696704.1:c.*232-344C>T	ENSP00000512823.1:n.*232-344C>T
ENST00000696705.1:c.*355-344C>T	ENSP00000512824.1:n.*355-344C>T
ENST00000422285.7:c.900-344C>T MANE Select	ENSP00000394382.2:n.900-344C>T
ENST00000379804.1:c.57-344C>T	ENSP00000369132.1:n.57-344C>T
ENST00000379806.9:c.1014-344C>T	ENSP00000369134.5:n.1014-344C>T
ENST00000422285.6:c.900-344C>T	ENSP00000394382.2:n.900-344C>T
ENST00000478795.1:n.339-344C>T
ENST00000481733.1:n.328-344C>T
ENST00000540249.5:c.807-344C>T	ENSP00000440761.1:n.807-344C>T
ENST00000545074.5:c.921-344C>T	ENSP00000438550.1:n.921-344C>T
NM_000284.3:c.900-344C>T	NP_000275.1:n.900-344C>T
NM_001173454.1:c.1014-344C>T	NP_001166925.1:n.1014-344C>T
NM_001173455.1:c.921-344C>T	NP_001166926.1:n.921-344C>T
NM_001173456.1:c.807-344C>T	NP_001166927.1:n.807-344C>T
XM_011545531.1:c.1035-344C>T	XP_011543833.1:n.1035-344C>T
XM_011545532.1:c.942-344C>T	XP_011543834.1:n.942-344C>T
XM_017029574.2:c.921-344C>T	XP_016885063.1:n.921-344C>T
NM_000284.4:c.900-344C>T MANE Select	NP_000275.1:n.900-344C>T
NM_001173454.2:c.1014-344C>T	NP_001166925.1:n.1014-344C>T
NM_001173455.2:c.921-344C>T	NP_001166926.1:n.921-344C>T
NM_001173456.2:c.807-344C>T	NP_001166927.1:n.807-344C>T