Canonical Allele Identifier: CA412396300

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377140A>T (hg19) ; chrX:g.19359022A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359022A>T , CM000685.2:g.19359022A>T	GRCh38
NC_000023.10:g.19377140A>T , CM000685.1:g.19377140A>T	GRCh37
NC_000023.9:g.19287061A>T	NCBI36
NG_016781.1:g.20130A>T
NG_021184.1:g.161240T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1027A>T	ENSP00000348062.6:p.Lys343Ter
ENST00000379805.4:c.*698A>T	ENSP00000369133.3:n.*698A>T
ENST00000417819.6:c.1090A>T	ENSP00000404616.2:p.Lys364Ter
ENST00000423505.6:c.1120A>T	ENSP00000406473.2:p.Lys374Ter
ENST00000481733.2:n.801A>T
ENST00000696704.1:c.*338A>T	ENSP00000512823.1:n.*338A>T
ENST00000696705.1:c.*461A>T	ENSP00000512824.1:n.*461A>T
ENST00000422285.7:c.1006A>T MANE Select	ENSP00000394382.2:p.Lys336Ter
ENST00000379804.1:c.163A>T	ENSP00000369132.1:p.Lys55Ter
ENST00000379806.9:c.1120A>T	ENSP00000369134.5:p.Lys374Ter
ENST00000422285.6:c.1006A>T	ENSP00000394382.2:p.Lys336Ter
ENST00000478795.1:n.445A>T
ENST00000481733.1:n.434A>T
ENST00000540249.5:c.913A>T	ENSP00000440761.1:p.Lys305Ter
ENST00000545074.5:c.1027A>T	ENSP00000438550.1:p.Lys343Ter
NM_000284.3:c.1006A>T	NP_000275.1:p.Lys336Ter
NM_001173454.1:c.1120A>T	NP_001166925.1:p.Lys374Ter
NM_001173455.1:c.1027A>T	NP_001166926.1:p.Lys343Ter
NM_001173456.1:c.913A>T	NP_001166927.1:p.Lys305Ter
XM_011545531.1:c.1141A>T	XP_011543833.1:p.Lys381Ter
XM_011545532.1:c.1048A>T	XP_011543834.1:p.Lys350Ter
XM_017029574.2:c.1027A>T	XP_016885063.1:p.Lys343Ter
NM_000284.4:c.1006A>T MANE Select	NP_000275.1:p.Lys336Ter
NM_001173454.2:c.1120A>T	NP_001166925.1:p.Lys374Ter
NM_001173455.2:c.1027A>T	NP_001166926.1:p.Lys343Ter
NM_001173456.2:c.913A>T	NP_001166927.1:p.Lys305Ter