Canonical Allele Identifier: CA412396004

Gene: PDHA1

Linked Data

• gnomAD v4: X-19358917-T-C
• MyVariant Identifiers: chrX:g.19377035T>C (hg19) ; chrX:g.19358917T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358917T>C , CM000685.2:g.19358917T>C	GRCh38
NC_000023.10:g.19377035T>C , CM000685.1:g.19377035T>C	GRCh37
NC_000023.9:g.19286956T>C	NCBI36
NG_016781.1:g.20025T>C
NG_021184.1:g.161345A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.922T>C	ENSP00000348062.6:p.Tyr308His
ENST00000379805.4:c.*593T>C	ENSP00000369133.3:n.*593T>C
ENST00000417819.6:c.985T>C	ENSP00000404616.2:p.Tyr329His
ENST00000423505.6:c.1015T>C	ENSP00000406473.2:p.Tyr339His
ENST00000481733.2:n.696T>C
ENST00000696704.1:c.*233T>C	ENSP00000512823.1:n.*233T>C
ENST00000696705.1:c.*356T>C	ENSP00000512824.1:n.*356T>C
ENST00000422285.7:c.901T>C MANE Select	ENSP00000394382.2:p.Tyr301His
ENST00000379804.1:c.58T>C	ENSP00000369132.1:p.Tyr20His
ENST00000379806.9:c.1015T>C	ENSP00000369134.5:p.Tyr339His
ENST00000422285.6:c.901T>C	ENSP00000394382.2:p.Tyr301His
ENST00000478795.1:n.340T>C
ENST00000481733.1:n.329T>C
ENST00000540249.5:c.808T>C	ENSP00000440761.1:p.Tyr270His
ENST00000545074.5:c.922T>C	ENSP00000438550.1:p.Tyr308His
NM_000284.3:c.901T>C	NP_000275.1:p.Tyr301His
NM_001173454.1:c.1015T>C	NP_001166925.1:p.Tyr339His
NM_001173455.1:c.922T>C	NP_001166926.1:p.Tyr308His
NM_001173456.1:c.808T>C	NP_001166927.1:p.Tyr270His
XM_011545531.1:c.1036T>C	XP_011543833.1:p.Tyr346His
XM_011545532.1:c.943T>C	XP_011543834.1:p.Tyr315His
XM_017029574.2:c.922T>C	XP_016885063.1:p.Tyr308His
NM_000284.4:c.901T>C MANE Select	NP_000275.1:p.Tyr301His
NM_001173454.2:c.1015T>C	NP_001166925.1:p.Tyr339His
NM_001173455.2:c.922T>C	NP_001166926.1:p.Tyr308His
NM_001173456.2:c.808T>C	NP_001166927.1:p.Tyr270His