Canonical Allele Identifier: CA412396303

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377141A>T (hg19) ; chrX:g.19359023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359023A>T , CM000685.2:g.19359023A>T	GRCh38
NC_000023.10:g.19377141A>T , CM000685.1:g.19377141A>T	GRCh37
NC_000023.9:g.19287062A>T	NCBI36
NG_016781.1:g.20131A>T
NG_021184.1:g.161239T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1028A>T	ENSP00000348062.6:p.Lys343Met
ENST00000379805.4:c.*699A>T	ENSP00000369133.3:n.*699A>T
ENST00000417819.6:c.1091A>T	ENSP00000404616.2:p.Lys364Met
ENST00000423505.6:c.1121A>T	ENSP00000406473.2:p.Lys374Met
ENST00000481733.2:n.802A>T
ENST00000696704.1:c.*339A>T	ENSP00000512823.1:n.*339A>T
ENST00000696705.1:c.*462A>T	ENSP00000512824.1:n.*462A>T
ENST00000422285.7:c.1007A>T MANE Select	ENSP00000394382.2:p.Lys336Met
ENST00000379804.1:c.164A>T	ENSP00000369132.1:p.Lys55Met
ENST00000379806.9:c.1121A>T	ENSP00000369134.5:p.Lys374Met
ENST00000422285.6:c.1007A>T	ENSP00000394382.2:p.Lys336Met
ENST00000478795.1:n.446A>T
ENST00000481733.1:n.435A>T
ENST00000540249.5:c.914A>T	ENSP00000440761.1:p.Lys305Met
ENST00000545074.5:c.1028A>T	ENSP00000438550.1:p.Lys343Met
NM_000284.3:c.1007A>T	NP_000275.1:p.Lys336Met
NM_001173454.1:c.1121A>T	NP_001166925.1:p.Lys374Met
NM_001173455.1:c.1028A>T	NP_001166926.1:p.Lys343Met
NM_001173456.1:c.914A>T	NP_001166927.1:p.Lys305Met
XM_011545531.1:c.1142A>T	XP_011543833.1:p.Lys381Met
XM_011545532.1:c.1049A>T	XP_011543834.1:p.Lys350Met
XM_017029574.2:c.1028A>T	XP_016885063.1:p.Lys343Met
NM_000284.4:c.1007A>T MANE Select	NP_000275.1:p.Lys336Met
NM_001173454.2:c.1121A>T	NP_001166925.1:p.Lys374Met
NM_001173455.2:c.1028A>T	NP_001166926.1:p.Lys343Met
NM_001173456.2:c.914A>T	NP_001166927.1:p.Lys305Met