Canonical Allele Identifier: CA515485998

Gene: PDHA1

Linked Data

• dbSNP Id: rs1602227520
• MyVariant Identifiers: chrX:g.19373499T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355381T>A , CM000685.2:g.19355381T>A	GRCh38
NC_000023.10:g.19373499T>A , CM000685.1:g.19373499T>A	GRCh37
NC_000023.9:g.19283420T>A	NCBI36
NG_016781.1:g.16489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.657T>A	ENSP00000348062.6:p.Ala219=
ENST00000379805.4:c.*328T>A	ENSP00000369133.3:n.*328T>A
ENST00000417819.6:c.720T>A	ENSP00000404616.2:p.Ala240=
ENST00000423505.6:c.750T>A	ENSP00000406473.2:p.Ala250=
ENST00000481733.2:n.431T>A
ENST00000696704.1:c.451T>A	ENSP00000512823.1:p.Phe151Ile
ENST00000696705.1:c.*91T>A	ENSP00000512824.1:n.*91T>A
ENST00000422285.7:c.636T>A MANE Select	ENSP00000394382.2:p.Ala212=
ENST00000379806.9:c.750T>A	ENSP00000369134.5:p.Ala250=
ENST00000422285.6:c.636T>A	ENSP00000394382.2:p.Ala212=
ENST00000479146.1:n.471T>A
ENST00000481733.1:n.64T>A
ENST00000540249.5:c.543T>A	ENSP00000440761.1:p.Ala181=
ENST00000545074.5:c.657T>A	ENSP00000438550.1:p.Ala219=
NM_000284.3:c.636T>A	NP_000275.1:p.Ala212=
NM_001173454.1:c.750T>A	NP_001166925.1:p.Ala250=
NM_001173455.1:c.657T>A	NP_001166926.1:p.Ala219=
NM_001173456.1:c.543T>A	NP_001166927.1:p.Ala181=
XM_011545531.1:c.771T>A	XP_011543833.1:p.Ala257=
XM_011545532.1:c.678T>A	XP_011543834.1:p.Ala226=
XM_017029574.2:c.657T>A	XP_016885063.1:p.Ala219=
NM_000284.4:c.636T>A MANE Select	NP_000275.1:p.Ala212=
NM_001173454.2:c.750T>A	NP_001166925.1:p.Ala250=
NM_001173455.2:c.657T>A	NP_001166926.1:p.Ala219=
NM_001173456.2:c.543T>A	NP_001166927.1:p.Ala181=