Canonical Allele Identifier: CA10363221

Gene: PDHA1

Linked Data

• dbSNP Id: rs756641063
• ExAC: X:19377750 C / G
• gnomAD v2: X-19377750-C-G
• gnomAD v4: X-19359632-C-G
• MyVariant Identifiers: chrX:g.19377750C>G (hg19) ; chrX:g.19359632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359632C>G , CM000685.2:g.19359632C>G	GRCh38
NC_000023.10:g.19377750C>G , CM000685.1:g.19377750C>G	GRCh37
NC_000023.9:g.19287671C>G	NCBI36
NG_016781.1:g.20740C>G
NG_021184.1:g.160630G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1173C>G	ENSP00000348062.6:p.Ile391Met
ENST00000379805.4:c.*844C>G	ENSP00000369133.3:n.*844C>G
ENST00000417819.6:c.1236C>G	ENSP00000404616.2:p.Ile412Met
ENST00000423505.6:c.1266C>G	ENSP00000406473.2:p.Ile422Met
ENST00000481733.2:n.947C>G
ENST00000696704.1:c.*484C>G	ENSP00000512823.1:n.*484C>G
ENST00000696705.1:c.*607C>G	ENSP00000512824.1:n.*607C>G
ENST00000422285.7:c.1152C>G MANE Select	ENSP00000394382.2:p.Ile384Met
ENST00000379804.1:c.309C>G	ENSP00000369132.1:p.Ile103Met
ENST00000379806.9:c.1266C>G	ENSP00000369134.5:p.Ile422Met
ENST00000422285.6:c.1152C>G	ENSP00000394382.2:p.Ile384Met
ENST00000478795.1:n.591C>G
ENST00000540249.5:c.1059C>G	ENSP00000440761.1:p.Ile353Met
ENST00000545074.5:c.1173C>G	ENSP00000438550.1:p.Ile391Met
NM_000284.3:c.1152C>G	NP_000275.1:p.Ile384Met
NM_001173454.1:c.1266C>G	NP_001166925.1:p.Ile422Met
NM_001173455.1:c.1173C>G	NP_001166926.1:p.Ile391Met
NM_001173456.1:c.1059C>G	NP_001166927.1:p.Ile353Met
XM_011545531.1:c.1287C>G	XP_011543833.1:p.Ile429Met
XM_011545532.1:c.1194C>G	XP_011543834.1:p.Ile398Met
XM_017029574.2:c.1173C>G	XP_016885063.1:p.Ile391Met
NM_000284.4:c.1152C>G MANE Select	NP_000275.1:p.Ile384Met
NM_001173454.2:c.1266C>G	NP_001166925.1:p.Ile422Met
NM_001173455.2:c.1173C>G	NP_001166926.1:p.Ile391Met
NM_001173456.2:c.1059C>G	NP_001166927.1:p.Ile353Met