Canonical Allele Identifier: CA412394435

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373512C>T (hg19) ; chrX:g.19355394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355394C>T , CM000685.2:g.19355394C>T	GRCh38
NC_000023.10:g.19373512C>T , CM000685.1:g.19373512C>T	GRCh37
NC_000023.9:g.19283433C>T	NCBI36
NG_016781.1:g.16502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.670C>T	ENSP00000348062.6:p.Pro224Ser
ENST00000379805.4:c.*341C>T	ENSP00000369133.3:n.*341C>T
ENST00000417819.6:c.733C>T	ENSP00000404616.2:p.Pro245Ser
ENST00000423505.6:c.763C>T	ENSP00000406473.2:p.Pro255Ser
ENST00000481733.2:n.444C>T
ENST00000696704.1:c.464C>T	ENSP00000512823.1:p.Thr155Ile
ENST00000696705.1:c.*104C>T	ENSP00000512824.1:n.*104C>T
ENST00000422285.7:c.649C>T MANE Select	ENSP00000394382.2:p.Pro217Ser
ENST00000379806.9:c.763C>T	ENSP00000369134.5:p.Pro255Ser
ENST00000422285.6:c.649C>T	ENSP00000394382.2:p.Pro217Ser
ENST00000479146.1:n.484C>T
ENST00000481733.1:n.77C>T
ENST00000540249.5:c.556C>T	ENSP00000440761.1:p.Pro186Ser
ENST00000545074.5:c.670C>T	ENSP00000438550.1:p.Pro224Ser
NM_000284.3:c.649C>T	NP_000275.1:p.Pro217Ser
NM_001173454.1:c.763C>T	NP_001166925.1:p.Pro255Ser
NM_001173455.1:c.670C>T	NP_001166926.1:p.Pro224Ser
NM_001173456.1:c.556C>T	NP_001166927.1:p.Pro186Ser
XM_011545531.1:c.784C>T	XP_011543833.1:p.Pro262Ser
XM_011545532.1:c.691C>T	XP_011543834.1:p.Pro231Ser
XM_017029574.2:c.670C>T	XP_016885063.1:p.Pro224Ser
NM_000284.4:c.649C>T MANE Select	NP_000275.1:p.Pro217Ser
NM_001173454.2:c.763C>T	NP_001166925.1:p.Pro255Ser
NM_001173455.2:c.670C>T	NP_001166926.1:p.Pro224Ser
NM_001173456.2:c.556C>T	NP_001166927.1:p.Pro186Ser