Canonical Allele Identifier: CA412397342

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377756T>G (hg19) ; chrX:g.19359638T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359638T>G , CM000685.2:g.19359638T>G	GRCh38
NC_000023.10:g.19377756T>G , CM000685.1:g.19377756T>G	GRCh37
NC_000023.9:g.19287677T>G	NCBI36
NG_016781.1:g.20746T>G
NG_021184.1:g.160624A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1179T>G	ENSP00000348062.6:p.Phe393Leu
ENST00000379805.4:c.*850T>G	ENSP00000369133.3:n.*850T>G
ENST00000417819.6:c.1242T>G	ENSP00000404616.2:p.Phe414Leu
ENST00000423505.6:c.1272T>G	ENSP00000406473.2:p.Phe424Leu
ENST00000481733.2:n.953T>G
ENST00000696704.1:c.*490T>G	ENSP00000512823.1:n.*490T>G
ENST00000696705.1:c.*613T>G	ENSP00000512824.1:n.*613T>G
ENST00000422285.7:c.1158T>G MANE Select	ENSP00000394382.2:p.Phe386Leu
ENST00000379804.1:c.315T>G	ENSP00000369132.1:p.Phe105Leu
ENST00000379806.9:c.1272T>G	ENSP00000369134.5:p.Phe424Leu
ENST00000422285.6:c.1158T>G	ENSP00000394382.2:p.Phe386Leu
ENST00000478795.1:n.597T>G
ENST00000540249.5:c.1065T>G	ENSP00000440761.1:p.Phe355Leu
ENST00000545074.5:c.1179T>G	ENSP00000438550.1:p.Phe393Leu
NM_000284.3:c.1158T>G	NP_000275.1:p.Phe386Leu
NM_001173454.1:c.1272T>G	NP_001166925.1:p.Phe424Leu
NM_001173455.1:c.1179T>G	NP_001166926.1:p.Phe393Leu
NM_001173456.1:c.1065T>G	NP_001166927.1:p.Phe355Leu
XM_011545531.1:c.1293T>G	XP_011543833.1:p.Phe431Leu
XM_011545532.1:c.1200T>G	XP_011543834.1:p.Phe400Leu
XM_017029574.2:c.1179T>G	XP_016885063.1:p.Phe393Leu
NM_000284.4:c.1158T>G MANE Select	NP_000275.1:p.Phe386Leu
NM_001173454.2:c.1272T>G	NP_001166925.1:p.Phe424Leu
NM_001173455.2:c.1179T>G	NP_001166926.1:p.Phe393Leu
NM_001173456.2:c.1065T>G	NP_001166927.1:p.Phe355Leu