Canonical Allele Identifier: CA412397416

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377758A>T (hg19) ; chrX:g.19359640A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359640A>T , CM000685.2:g.19359640A>T	GRCh38
NC_000023.10:g.19377758A>T , CM000685.1:g.19377758A>T	GRCh37
NC_000023.9:g.19287679A>T	NCBI36
NG_016781.1:g.20748A>T
NG_021184.1:g.160622T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1181A>T	ENSP00000348062.6:p.Lys394Met
ENST00000379805.4:c.*852A>T	ENSP00000369133.3:n.*852A>T
ENST00000417819.6:c.1244A>T	ENSP00000404616.2:p.Lys415Met
ENST00000423505.6:c.1274A>T	ENSP00000406473.2:p.Lys425Met
ENST00000481733.2:n.955A>T
ENST00000696704.1:c.*492A>T	ENSP00000512823.1:n.*492A>T
ENST00000696705.1:c.*615A>T	ENSP00000512824.1:n.*615A>T
ENST00000422285.7:c.1160A>T MANE Select	ENSP00000394382.2:p.Lys387Met
ENST00000379804.1:c.317A>T	ENSP00000369132.1:p.Lys106Met
ENST00000379806.9:c.1274A>T	ENSP00000369134.5:p.Lys425Met
ENST00000422285.6:c.1160A>T	ENSP00000394382.2:p.Lys387Met
ENST00000478795.1:n.599A>T
ENST00000540249.5:c.1067A>T	ENSP00000440761.1:p.Lys356Met
ENST00000545074.5:c.1181A>T	ENSP00000438550.1:p.Lys394Met
NM_000284.3:c.1160A>T	NP_000275.1:p.Lys387Met
NM_001173454.1:c.1274A>T	NP_001166925.1:p.Lys425Met
NM_001173455.1:c.1181A>T	NP_001166926.1:p.Lys394Met
NM_001173456.1:c.1067A>T	NP_001166927.1:p.Lys356Met
XM_011545531.1:c.1295A>T	XP_011543833.1:p.Lys432Met
XM_011545532.1:c.1202A>T	XP_011543834.1:p.Lys401Met
XM_017029574.2:c.1181A>T	XP_016885063.1:p.Lys394Met
NM_000284.4:c.1160A>T MANE Select	NP_000275.1:p.Lys387Met
NM_001173454.2:c.1274A>T	NP_001166925.1:p.Lys425Met
NM_001173455.2:c.1181A>T	NP_001166926.1:p.Lys394Met
NM_001173456.2:c.1067A>T	NP_001166927.1:p.Lys356Met