Canonical Allele Identifier: CA412394560

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373558C>T (hg19) ; chrX:g.19355440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355440C>T , CM000685.2:g.19355440C>T	GRCh38
NC_000023.10:g.19373558C>T , CM000685.1:g.19373558C>T	GRCh37
NC_000023.9:g.19283479C>T	NCBI36
NG_016781.1:g.16548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.716C>T	ENSP00000348062.6:p.Ser239Phe
ENST00000379805.4:c.*387C>T	ENSP00000369133.3:n.*387C>T
ENST00000417819.6:c.779C>T	ENSP00000404616.2:p.Ser260Phe
ENST00000423505.6:c.809C>T	ENSP00000406473.2:p.Ser270Phe
ENST00000481733.2:n.490C>T
ENST00000696704.1:c.*27C>T	ENSP00000512823.1:n.*27C>T
ENST00000696705.1:c.*150C>T	ENSP00000512824.1:n.*150C>T
ENST00000422285.7:c.695C>T MANE Select	ENSP00000394382.2:p.Ser232Phe
ENST00000379806.9:c.809C>T	ENSP00000369134.5:p.Ser270Phe
ENST00000422285.6:c.695C>T	ENSP00000394382.2:p.Ser232Phe
ENST00000479146.1:n.530C>T
ENST00000481733.1:n.123C>T
ENST00000540249.5:c.602C>T	ENSP00000440761.1:p.Ser201Phe
ENST00000545074.5:c.716C>T	ENSP00000438550.1:p.Ser239Phe
NM_000284.3:c.695C>T	NP_000275.1:p.Ser232Phe
NM_001173454.1:c.809C>T	NP_001166925.1:p.Ser270Phe
NM_001173455.1:c.716C>T	NP_001166926.1:p.Ser239Phe
NM_001173456.1:c.602C>T	NP_001166927.1:p.Ser201Phe
XM_011545531.1:c.830C>T	XP_011543833.1:p.Ser277Phe
XM_011545532.1:c.737C>T	XP_011543834.1:p.Ser246Phe
XM_017029574.2:c.716C>T	XP_016885063.1:p.Ser239Phe
NM_000284.4:c.695C>T MANE Select	NP_000275.1:p.Ser232Phe
NM_001173454.2:c.809C>T	NP_001166925.1:p.Ser270Phe
NM_001173455.2:c.716C>T	NP_001166926.1:p.Ser239Phe
NM_001173456.2:c.602C>T	NP_001166927.1:p.Ser201Phe