Canonical Allele Identifier: CA5945991

Gene: PDHX

Linked Data

• dbSNP Id: rs763473883
• ExAC: 11:34988336 C / T
• gnomAD v2: 11-34988336-C-T
• gnomAD v4: 11-34966789-C-T
• MyVariant Identifiers: chr11:g.34988336C>T (hg19) ; chr11:g.34966789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966789C>T , CM000673.2:g.34966789C>T	GRCh38
NC_000011.9:g.34988336C>T , CM000673.1:g.34988336C>T	GRCh37
NC_000011.8:g.34944912C>T	NCBI36
NG_013368.1:g.55660C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.611C>T	ENSP00000389404.3:p.Ser204Leu
ENST00000227868.9:c.791C>T MANE Select	ENSP00000227868.4:p.Ser264Leu
ENST00000227868.8:c.791C>T	ENSP00000227868.4:p.Ser264Leu
ENST00000430469.6:c.343-17781C>T	ENSP00000415695.2:n.343-17781C>T
ENST00000448838.7:c.746C>T	ENSP00000389404.2:p.Ser249Leu
NM_001135024.1:c.746C>T	NP_001128496.1:p.Ser249Leu
NM_001166158.1:c.343-17781C>T	NP_001159630.1:n.343-17781C>T
NM_003477.2:c.791C>T	NP_003468.2:p.Ser264Leu
XM_011520390.1:c.611C>T	XP_011518692.1:p.Ser204Leu
NM_003477.3:c.791C>T MANE Select	NP_003468.2:p.Ser264Leu
NM_001135024.2:c.611C>T	NP_001128496.2:p.Ser204Leu
NM_001166158.2:c.343-17781C>T	NP_001159630.1:n.343-17781C>T