Canonical Allele Identifier: CA412394419

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373508A>C (hg19) ; chrX:g.19355390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355390A>C , CM000685.2:g.19355390A>C	GRCh38
NC_000023.10:g.19373508A>C , CM000685.1:g.19373508A>C	GRCh37
NC_000023.9:g.19283429A>C	NCBI36
NG_016781.1:g.16498A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.666A>C	ENSP00000348062.6:p.Lys222Asn
ENST00000379805.4:c.*337A>C	ENSP00000369133.3:n.*337A>C
ENST00000417819.6:c.729A>C	ENSP00000404616.2:p.Lys243Asn
ENST00000423505.6:c.759A>C	ENSP00000406473.2:p.Lys253Asn
ENST00000481733.2:n.440A>C
ENST00000696704.1:c.460A>C	ENSP00000512823.1:p.Ile154Leu
ENST00000696705.1:c.*100A>C	ENSP00000512824.1:n.*100A>C
ENST00000422285.7:c.645A>C MANE Select	ENSP00000394382.2:p.Lys215Asn
ENST00000379806.9:c.759A>C	ENSP00000369134.5:p.Lys253Asn
ENST00000422285.6:c.645A>C	ENSP00000394382.2:p.Lys215Asn
ENST00000479146.1:n.480A>C
ENST00000481733.1:n.73A>C
ENST00000540249.5:c.552A>C	ENSP00000440761.1:p.Lys184Asn
ENST00000545074.5:c.666A>C	ENSP00000438550.1:p.Lys222Asn
NM_000284.3:c.645A>C	NP_000275.1:p.Lys215Asn
NM_001173454.1:c.759A>C	NP_001166925.1:p.Lys253Asn
NM_001173455.1:c.666A>C	NP_001166926.1:p.Lys222Asn
NM_001173456.1:c.552A>C	NP_001166927.1:p.Lys184Asn
XM_011545531.1:c.780A>C	XP_011543833.1:p.Lys260Asn
XM_011545532.1:c.687A>C	XP_011543834.1:p.Lys229Asn
XM_017029574.2:c.666A>C	XP_016885063.1:p.Lys222Asn
NM_000284.4:c.645A>C MANE Select	NP_000275.1:p.Lys215Asn
NM_001173454.2:c.759A>C	NP_001166925.1:p.Lys253Asn
NM_001173455.2:c.666A>C	NP_001166926.1:p.Lys222Asn
NM_001173456.2:c.552A>C	NP_001166927.1:p.Lys184Asn