Canonical Allele Identifier: CA10363220

Gene: PDHA1

Linked Data

• dbSNP Id: rs753124944
• ExAC: X:19377748 A / C
• gnomAD v2: X-19377748-A-C
• gnomAD v4: X-19359630-A-C
• MyVariant Identifiers: chrX:g.19377748A>C (hg19) ; chrX:g.19359630A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359630A>C , CM000685.2:g.19359630A>C	GRCh38
NC_000023.10:g.19377748A>C , CM000685.1:g.19377748A>C	GRCh37
NC_000023.9:g.19287669A>C	NCBI36
NG_016781.1:g.20738A>C
NG_021184.1:g.160632T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1171A>C	ENSP00000348062.6:p.Ile391Leu
ENST00000379805.4:c.*842A>C	ENSP00000369133.3:n.*842A>C
ENST00000417819.6:c.1234A>C	ENSP00000404616.2:p.Ile412Leu
ENST00000423505.6:c.1264A>C	ENSP00000406473.2:p.Ile422Leu
ENST00000481733.2:n.945A>C
ENST00000696704.1:c.*482A>C	ENSP00000512823.1:n.*482A>C
ENST00000696705.1:c.*605A>C	ENSP00000512824.1:n.*605A>C
ENST00000422285.7:c.1150A>C MANE Select	ENSP00000394382.2:p.Ile384Leu
ENST00000379804.1:c.307A>C	ENSP00000369132.1:p.Ile103Leu
ENST00000379806.9:c.1264A>C	ENSP00000369134.5:p.Ile422Leu
ENST00000422285.6:c.1150A>C	ENSP00000394382.2:p.Ile384Leu
ENST00000478795.1:n.589A>C
ENST00000540249.5:c.1057A>C	ENSP00000440761.1:p.Ile353Leu
ENST00000545074.5:c.1171A>C	ENSP00000438550.1:p.Ile391Leu
NM_000284.3:c.1150A>C	NP_000275.1:p.Ile384Leu
NM_001173454.1:c.1264A>C	NP_001166925.1:p.Ile422Leu
NM_001173455.1:c.1171A>C	NP_001166926.1:p.Ile391Leu
NM_001173456.1:c.1057A>C	NP_001166927.1:p.Ile353Leu
XM_011545531.1:c.1285A>C	XP_011543833.1:p.Ile429Leu
XM_011545532.1:c.1192A>C	XP_011543834.1:p.Ile398Leu
XM_017029574.2:c.1171A>C	XP_016885063.1:p.Ile391Leu
NM_000284.4:c.1150A>C MANE Select	NP_000275.1:p.Ile384Leu
NM_001173454.2:c.1264A>C	NP_001166925.1:p.Ile422Leu
NM_001173455.2:c.1171A>C	NP_001166926.1:p.Ile391Leu
NM_001173456.2:c.1057A>C	NP_001166927.1:p.Ile353Leu