Canonical Allele Identifier: CA2819936752

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355548G>T , CM000685.2:g.19355548G>T	GRCh38
NC_000023.10:g.19373666G>T , CM000685.1:g.19373666G>T	GRCh37
NC_000023.9:g.19283587G>T	NCBI36
NG_016781.1:g.16656G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.780+44G>T	ENSP00000348062.6:n.780+44G>T
ENST00000379805.4:c.*451+44G>T	ENSP00000369133.3:n.*451+44G>T
ENST00000417819.6:c.843+44G>T	ENSP00000404616.2:n.843+44G>T
ENST00000423505.6:c.873+44G>T	ENSP00000406473.2:n.873+44G>T
ENST00000481733.2:n.554+44G>T
ENST00000696704.1:c.*91+44G>T	ENSP00000512823.1:n.*91+44G>T
ENST00000696705.1:c.*214+44G>T	ENSP00000512824.1:n.*214+44G>T
ENST00000422285.7:c.759+44G>T MANE Select	ENSP00000394382.2:n.759+44G>T
ENST00000379806.9:c.873+44G>T	ENSP00000369134.5:n.873+44G>T
ENST00000422285.6:c.759+44G>T	ENSP00000394382.2:n.759+44G>T
ENST00000481733.1:n.187+44G>T
ENST00000540249.5:c.666+44G>T	ENSP00000440761.1:n.666+44G>T
ENST00000545074.5:c.780+44G>T	ENSP00000438550.1:n.780+44G>T
NM_000284.3:c.759+44G>T	NP_000275.1:n.759+44G>T
NM_001173454.1:c.873+44G>T	NP_001166925.1:n.873+44G>T
NM_001173455.1:c.780+44G>T	NP_001166926.1:n.780+44G>T
NM_001173456.1:c.666+44G>T	NP_001166927.1:n.666+44G>T
XM_011545531.1:c.894+44G>T	XP_011543833.1:n.894+44G>T
XM_011545532.1:c.801+44G>T	XP_011543834.1:n.801+44G>T
XM_017029574.2:c.780+44G>T	XP_016885063.1:n.780+44G>T
NM_000284.4:c.759+44G>T MANE Select	NP_000275.1:n.759+44G>T
NM_001173454.2:c.873+44G>T	NP_001166925.1:n.873+44G>T
NM_001173455.2:c.780+44G>T	NP_001166926.1:n.780+44G>T
NM_001173456.2:c.666+44G>T	NP_001166927.1:n.666+44G>T