Canonical Allele Identifier: CA10363185

Gene: PDHA1

Linked Data

• dbSNP Id: rs374788144
• ExAC: X:19377181 T / C
• gnomAD v2: X-19377181-T-C
• gnomAD v3: X-19359063-T-C
• gnomAD v4: X-19359063-T-C
• MyVariant Identifiers: chrX:g.19377181T>C (hg19) ; chrX:g.19359063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359063T>C , CM000685.2:g.19359063T>C	GRCh38
NC_000023.10:g.19377181T>C , CM000685.1:g.19377181T>C	GRCh37
NC_000023.9:g.19287102T>C	NCBI36
NG_016781.1:g.20171T>C
NG_021184.1:g.161199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1029+39T>C	ENSP00000348062.6:n.1029+39T>C
ENST00000379805.4:c.*700+39T>C	ENSP00000369133.3:n.*700+39T>C
ENST00000417819.6:c.1092+39T>C	ENSP00000404616.2:n.1092+39T>C
ENST00000423505.6:c.1122+39T>C	ENSP00000406473.2:n.1122+39T>C
ENST00000481733.2:n.803+39T>C
ENST00000696704.1:c.*340+39T>C	ENSP00000512823.1:n.*340+39T>C
ENST00000696705.1:c.*463+39T>C	ENSP00000512824.1:n.*463+39T>C
ENST00000422285.7:c.1008+39T>C MANE Select	ENSP00000394382.2:n.1008+39T>C
ENST00000379804.1:c.165+39T>C	ENSP00000369132.1:n.165+39T>C
ENST00000379806.9:c.1122+39T>C	ENSP00000369134.5:n.1122+39T>C
ENST00000422285.6:c.1008+39T>C	ENSP00000394382.2:n.1008+39T>C
ENST00000478795.1:n.447+39T>C
ENST00000540249.5:c.915+39T>C	ENSP00000440761.1:n.915+39T>C
ENST00000545074.5:c.1029+39T>C	ENSP00000438550.1:n.1029+39T>C
NM_000284.3:c.1008+39T>C	NP_000275.1:n.1008+39T>C
NM_001173454.1:c.1122+39T>C	NP_001166925.1:n.1122+39T>C
NM_001173455.1:c.1029+39T>C	NP_001166926.1:n.1029+39T>C
NM_001173456.1:c.915+39T>C	NP_001166927.1:n.915+39T>C
XM_011545531.1:c.1143+39T>C	XP_011543833.1:n.1143+39T>C
XM_011545532.1:c.1050+39T>C	XP_011543834.1:n.1050+39T>C
XM_017029574.2:c.1029+39T>C	XP_016885063.1:n.1029+39T>C
NM_000284.4:c.1008+39T>C MANE Select	NP_000275.1:n.1008+39T>C
NM_001173454.2:c.1122+39T>C	NP_001166925.1:n.1122+39T>C
NM_001173455.2:c.1029+39T>C	NP_001166926.1:n.1029+39T>C
NM_001173456.2:c.915+39T>C	NP_001166927.1:n.915+39T>C