Canonical Allele Identifier: CA412394738

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373815G>T (hg19) ; chrX:g.19355697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355697G>T , CM000685.2:g.19355697G>T	GRCh38
NC_000023.10:g.19373815G>T , CM000685.1:g.19373815G>T	GRCh37
NC_000023.9:g.19283736G>T	NCBI36
NG_016781.1:g.16805G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.792G>T	ENSP00000348062.6:p.Met264Ile
ENST00000379805.4:c.*463G>T	ENSP00000369133.3:n.*463G>T
ENST00000417819.6:c.855G>T	ENSP00000404616.2:p.Met285Ile
ENST00000423505.6:c.885G>T	ENSP00000406473.2:p.Met295Ile
ENST00000481733.2:n.566G>T
ENST00000696704.1:c.*103G>T	ENSP00000512823.1:n.*103G>T
ENST00000696705.1:c.*226G>T	ENSP00000512824.1:n.*226G>T
ENST00000422285.7:c.771G>T MANE Select	ENSP00000394382.2:p.Met257Ile
ENST00000379804.1:c.-73G>T	ENSP00000369132.1:n.-73G>T
ENST00000379806.9:c.885G>T	ENSP00000369134.5:p.Met295Ile
ENST00000422285.6:c.771G>T	ENSP00000394382.2:p.Met257Ile
ENST00000481733.1:n.199G>T
ENST00000540249.5:c.678G>T	ENSP00000440761.1:p.Met226Ile
ENST00000545074.5:c.792G>T	ENSP00000438550.1:p.Met264Ile
NM_000284.3:c.771G>T	NP_000275.1:p.Met257Ile
NM_001173454.1:c.885G>T	NP_001166925.1:p.Met295Ile
NM_001173455.1:c.792G>T	NP_001166926.1:p.Met264Ile
NM_001173456.1:c.678G>T	NP_001166927.1:p.Met226Ile
XM_011545531.1:c.906G>T	XP_011543833.1:p.Met302Ile
XM_011545532.1:c.813G>T	XP_011543834.1:p.Met271Ile
XM_017029574.2:c.792G>T	XP_016885063.1:p.Met264Ile
NM_000284.4:c.771G>T MANE Select	NP_000275.1:p.Met257Ile
NM_001173454.2:c.885G>T	NP_001166925.1:p.Met295Ile
NM_001173455.2:c.792G>T	NP_001166926.1:p.Met264Ile
NM_001173456.2:c.678G>T	NP_001166927.1:p.Met226Ile