Canonical Allele Identifier: CA10363219

Gene: PDHA1

Linked Data

• dbSNP Id: rs767675495
• ExAC: X:19377744 G / C
• gnomAD v2: X-19377744-G-C
• gnomAD v4: X-19359626-G-C
• MyVariant Identifiers: chrX:g.19377744G>C (hg19) ; chrX:g.19359626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359626G>C , CM000685.2:g.19359626G>C	GRCh38
NC_000023.10:g.19377744G>C , CM000685.1:g.19377744G>C	GRCh37
NC_000023.9:g.19287665G>C	NCBI36
NG_016781.1:g.20734G>C
NG_021184.1:g.160636C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1167G>C	ENSP00000348062.6:p.Gln389His
ENST00000379805.4:c.*838G>C	ENSP00000369133.3:n.*838G>C
ENST00000417819.6:c.1230G>C	ENSP00000404616.2:p.Gln410His
ENST00000423505.6:c.1260G>C	ENSP00000406473.2:p.Gln420His
ENST00000481733.2:n.941G>C
ENST00000696704.1:c.*478G>C	ENSP00000512823.1:n.*478G>C
ENST00000696705.1:c.*601G>C	ENSP00000512824.1:n.*601G>C
ENST00000422285.7:c.1146G>C MANE Select	ENSP00000394382.2:p.Gln382His
ENST00000379804.1:c.303G>C	ENSP00000369132.1:p.Gln101His
ENST00000379806.9:c.1260G>C	ENSP00000369134.5:p.Gln420His
ENST00000422285.6:c.1146G>C	ENSP00000394382.2:p.Gln382His
ENST00000478795.1:n.585G>C
ENST00000540249.5:c.1053G>C	ENSP00000440761.1:p.Gln351His
ENST00000545074.5:c.1167G>C	ENSP00000438550.1:p.Gln389His
NM_000284.3:c.1146G>C	NP_000275.1:p.Gln382His
NM_001173454.1:c.1260G>C	NP_001166925.1:p.Gln420His
NM_001173455.1:c.1167G>C	NP_001166926.1:p.Gln389His
NM_001173456.1:c.1053G>C	NP_001166927.1:p.Gln351His
XM_011545531.1:c.1281G>C	XP_011543833.1:p.Gln427His
XM_011545532.1:c.1188G>C	XP_011543834.1:p.Gln396His
XM_017029574.2:c.1167G>C	XP_016885063.1:p.Gln389His
NM_000284.4:c.1146G>C MANE Select	NP_000275.1:p.Gln382His
NM_001173454.2:c.1260G>C	NP_001166925.1:p.Gln420His
NM_001173455.2:c.1167G>C	NP_001166926.1:p.Gln389His
NM_001173456.2:c.1053G>C	NP_001166927.1:p.Gln351His