Canonical Allele Identifier: CA412396154

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377077G>C (hg19) ; chrX:g.19358959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358959G>C , CM000685.2:g.19358959G>C	GRCh38
NC_000023.10:g.19377077G>C , CM000685.1:g.19377077G>C	GRCh37
NC_000023.9:g.19286998G>C	NCBI36
NG_016781.1:g.20067G>C
NG_021184.1:g.161303C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.964G>C	ENSP00000348062.6:p.Asp322His
ENST00000379805.4:c.*635G>C	ENSP00000369133.3:n.*635G>C
ENST00000417819.6:c.1027G>C	ENSP00000404616.2:p.Asp343His
ENST00000423505.6:c.1057G>C	ENSP00000406473.2:p.Asp353His
ENST00000481733.2:n.738G>C
ENST00000696704.1:c.*275G>C	ENSP00000512823.1:n.*275G>C
ENST00000696705.1:c.*398G>C	ENSP00000512824.1:n.*398G>C
ENST00000422285.7:c.943G>C MANE Select	ENSP00000394382.2:p.Asp315His
ENST00000379804.1:c.100G>C	ENSP00000369132.1:p.Asp34His
ENST00000379806.9:c.1057G>C	ENSP00000369134.5:p.Asp353His
ENST00000422285.6:c.943G>C	ENSP00000394382.2:p.Asp315His
ENST00000478795.1:n.382G>C
ENST00000481733.1:n.371G>C
ENST00000540249.5:c.850G>C	ENSP00000440761.1:p.Asp284His
ENST00000545074.5:c.964G>C	ENSP00000438550.1:p.Asp322His
NM_000284.3:c.943G>C	NP_000275.1:p.Asp315His
NM_001173454.1:c.1057G>C	NP_001166925.1:p.Asp353His
NM_001173455.1:c.964G>C	NP_001166926.1:p.Asp322His
NM_001173456.1:c.850G>C	NP_001166927.1:p.Asp284His
XM_011545531.1:c.1078G>C	XP_011543833.1:p.Asp360His
XM_011545532.1:c.985G>C	XP_011543834.1:p.Asp329His
XM_017029574.2:c.964G>C	XP_016885063.1:p.Asp322His
NM_000284.4:c.943G>C MANE Select	NP_000275.1:p.Asp315His
NM_001173454.2:c.1057G>C	NP_001166925.1:p.Asp353His
NM_001173455.2:c.964G>C	NP_001166926.1:p.Asp322His
NM_001173456.2:c.850G>C	NP_001166927.1:p.Asp284His