Canonical Allele Identifier: CA2693251490

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359874-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359874A>T , CM000685.2:g.19359874A>T	GRCh38
NC_000023.10:g.19377992A>T , CM000685.1:g.19377992A>T	GRCh37
NC_000023.9:g.19287913A>T	NCBI36
NG_016781.1:g.20982A>T
NG_021184.1:g.160388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*221A>T	ENSP00000348062.6:n.*221A>T
ENST00000423505.6:c.*221A>T	ENSP00000406473.2:n.*221A>T
ENST00000696704.1:c.*726A>T	ENSP00000512823.1:n.*726A>T
ENST00000696705.1:c.*849A>T	ENSP00000512824.1:n.*849A>T
ENST00000422285.7:c.*221A>T MANE Select	ENSP00000394382.2:n.*221A>T
ENST00000379806.9:c.*221A>T	ENSP00000369134.5:n.*221A>T
ENST00000422285.6:c.*221A>T	ENSP00000394382.2:n.*221A>T
ENST00000540249.5:c.*221A>T	ENSP00000440761.1:n.*221A>T
ENST00000545074.5:c.*221A>T	ENSP00000438550.1:n.*221A>T
NM_000284.3:c.*221A>T	NP_000275.1:n.*221A>T
NM_001173454.1:c.*221A>T	NP_001166925.1:n.*221A>T
NM_001173455.1:c.*221A>T	NP_001166926.1:n.*221A>T
NM_001173456.1:c.*221A>T	NP_001166927.1:n.*221A>T
XM_011545531.1:c.*221A>T	XP_011543833.1:n.*221A>T
XM_011545532.1:c.*221A>T	XP_011543834.1:n.*221A>T
NM_000284.4:c.*221A>T MANE Select	NP_000275.1:n.*221A>T
NM_001173454.2:c.*221A>T	NP_001166925.1:n.*221A>T
NM_001173455.2:c.*221A>T	NP_001166926.1:n.*221A>T
NM_001173456.2:c.*221A>T	NP_001166927.1:n.*221A>T