Canonical Allele Identifier: CA412395222

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375809G>T (hg19) ; chrX:g.19357691G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357691G>T , CM000685.2:g.19357691G>T	GRCh38
NC_000023.10:g.19375809G>T , CM000685.1:g.19375809G>T	GRCh37
NC_000023.9:g.19285730G>T	NCBI36
NG_016781.1:g.18799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.892G>T	ENSP00000348062.6:p.Gly298Ter
ENST00000379805.4:c.*563G>T	ENSP00000369133.3:n.*563G>T
ENST00000417819.6:c.955G>T	ENSP00000404616.2:p.Gly319Ter
ENST00000423505.6:c.985G>T	ENSP00000406473.2:p.Gly329Ter
ENST00000481733.2:n.666G>T
ENST00000696704.1:c.*203G>T	ENSP00000512823.1:n.*203G>T
ENST00000696705.1:c.*326G>T	ENSP00000512824.1:n.*326G>T
ENST00000422285.7:c.871G>T MANE Select	ENSP00000394382.2:p.Gly291Ter
ENST00000379804.1:c.28G>T	ENSP00000369132.1:p.Gly10Ter
ENST00000379806.9:c.985G>T	ENSP00000369134.5:p.Gly329Ter
ENST00000422285.6:c.871G>T	ENSP00000394382.2:p.Gly291Ter
ENST00000478795.1:n.310G>T
ENST00000481733.1:n.299G>T
ENST00000540249.5:c.778G>T	ENSP00000440761.1:p.Gly260Ter
ENST00000545074.5:c.892G>T	ENSP00000438550.1:p.Gly298Ter
NM_000284.3:c.871G>T	NP_000275.1:p.Gly291Ter
NM_001173454.1:c.985G>T	NP_001166925.1:p.Gly329Ter
NM_001173455.1:c.892G>T	NP_001166926.1:p.Gly298Ter
NM_001173456.1:c.778G>T	NP_001166927.1:p.Gly260Ter
XM_011545531.1:c.1006G>T	XP_011543833.1:p.Gly336Ter
XM_011545532.1:c.913G>T	XP_011543834.1:p.Gly305Ter
XM_017029574.2:c.892G>T	XP_016885063.1:p.Gly298Ter
NM_000284.4:c.871G>T MANE Select	NP_000275.1:p.Gly291Ter
NM_001173454.2:c.985G>T	NP_001166925.1:p.Gly329Ter
NM_001173455.2:c.892G>T	NP_001166926.1:p.Gly298Ter
NM_001173456.2:c.778G>T	NP_001166927.1:p.Gly260Ter