Canonical Allele Identifier: CA515486188

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 1149228
• ClinVar RCV Id: RCV001489398 ; RCV003956083
• dbSNP Id: rs1418512491
• gnomAD v4: X-19357687-C-T
• MyVariant Identifiers: chrX:g.19375805C>T (hg19) ; chrX:g.19357687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357687C>T , CM000685.2:g.19357687C>T	GRCh38
NC_000023.10:g.19375805C>T , CM000685.1:g.19375805C>T	GRCh37
NC_000023.9:g.19285726C>T	NCBI36
NG_016781.1:g.18795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.888C>T	ENSP00000348062.6:p.Tyr296=
ENST00000379805.4:c.*559C>T	ENSP00000369133.3:n.*559C>T
ENST00000417819.6:c.951C>T	ENSP00000404616.2:p.Tyr317=
ENST00000423505.6:c.981C>T	ENSP00000406473.2:p.Tyr327=
ENST00000481733.2:n.662C>T
ENST00000696704.1:c.*199C>T	ENSP00000512823.1:n.*199C>T
ENST00000696705.1:c.*322C>T	ENSP00000512824.1:n.*322C>T
ENST00000422285.7:c.867C>T MANE Select	ENSP00000394382.2:p.Tyr289=
ENST00000379804.1:c.24C>T	ENSP00000369132.1:p.Tyr8=
ENST00000379806.9:c.981C>T	ENSP00000369134.5:p.Tyr327=
ENST00000422285.6:c.867C>T	ENSP00000394382.2:p.Tyr289=
ENST00000478795.1:n.306C>T
ENST00000481733.1:n.295C>T
ENST00000540249.5:c.774C>T	ENSP00000440761.1:p.Tyr258=
ENST00000545074.5:c.888C>T	ENSP00000438550.1:p.Tyr296=
NM_000284.3:c.867C>T	NP_000275.1:p.Tyr289=
NM_001173454.1:c.981C>T	NP_001166925.1:p.Tyr327=
NM_001173455.1:c.888C>T	NP_001166926.1:p.Tyr296=
NM_001173456.1:c.774C>T	NP_001166927.1:p.Tyr258=
XM_011545531.1:c.1002C>T	XP_011543833.1:p.Tyr334=
XM_011545532.1:c.909C>T	XP_011543834.1:p.Tyr303=
XM_017029574.2:c.888C>T	XP_016885063.1:p.Tyr296=
NM_000284.4:c.867C>T MANE Select	NP_000275.1:p.Tyr289=
NM_001173454.2:c.981C>T	NP_001166925.1:p.Tyr327=
NM_001173455.2:c.888C>T	NP_001166926.1:p.Tyr296=
NM_001173456.2:c.774C>T	NP_001166927.1:p.Tyr258=