Canonical Allele Identifier: CA5945732

Gene: PDHX

Linked Data

• dbSNP Id: rs374923275
• ExAC: 11:34938292 G / T
• gnomAD v2: 11-34938292-G-T
• gnomAD v3: 11-34916745-G-T
• gnomAD v4: 11-34916745-G-T
• MyVariant Identifiers: chr11:g.34938292G>T (hg19) ; chr11:g.34916745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916745G>T , CM000673.2:g.34916745G>T	GRCh38
NC_000011.9:g.34938292G>T , CM000673.1:g.34938292G>T	GRCh37
NC_000011.8:g.34894868G>T	NCBI36
NG_013368.1:g.5616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+259G>T	ENSP00000389404.3:n.-21+259G>T
ENST00000227868.9:c.90G>T MANE Select	ENSP00000227868.4:p.Lys30Asn
ENST00000227868.8:c.90G>T	ENSP00000227868.4:p.Lys30Asn
ENST00000430469.6:c.90G>T	ENSP00000415695.2:p.Lys30Asn
ENST00000448838.7:c.115+259G>T	ENSP00000389404.2:n.115+259G>T
ENST00000533262.1:c.90G>T	ENSP00000432277.1:p.Lys30Asn
ENST00000533550.5:c.-21+807G>T	ENSP00000431281.1:n.-21+807G>T
NM_001135024.1:c.115+259G>T	NP_001128496.1:n.115+259G>T
NM_001166158.1:c.90G>T	NP_001159630.1:p.Lys30Asn
NM_003477.2:c.90G>T	NP_003468.2:p.Lys30Asn
XM_011520390.1:c.-21+807G>T	XP_011518692.1:n.-21+807G>T
NM_003477.3:c.90G>T MANE Select	NP_003468.2:p.Lys30Asn
NM_001135024.2:c.-21+259G>T	NP_001128496.2:n.-21+259G>T
NM_001166158.2:c.90G>T	NP_001159630.1:p.Lys30Asn