Canonical Allele Identifier: CA2613095023

Gene: PDHX

Linked Data

• gnomAD v4: 11-34995819-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995819G>T , CM000673.2:g.34995819G>T	GRCh38
NC_000011.9:g.35017366G>T , CM000673.1:g.35017366G>T	GRCh37
NC_000011.8:g.34973942G>T	NCBI36
NG_013368.1:g.84690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.*647G>T	ENSP00000389404.3:n.*647G>T
ENST00000227868.9:c.*647G>T MANE Select	ENSP00000227868.4:n.*647G>T
ENST00000227868.8:c.*647G>T	ENSP00000227868.4:n.*647G>T
ENST00000448838.7:c.*647G>T	ENSP00000389404.2:n.*647G>T
ENST00000477173.3:n.161+3440G>T
NM_001135024.1:c.*647G>T	NP_001128496.1:n.*647G>T
NM_001166158.1:c.*647G>T	NP_001159630.1:n.*647G>T
NM_003477.2:c.*647G>T	NP_003468.2:n.*647G>T
XM_011520390.1:c.*647G>T	XP_011518692.1:n.*647G>T
NM_003477.3:c.*647G>T MANE Select	NP_003468.2:n.*647G>T
NM_001135024.2:c.*647G>T	NP_001128496.2:n.*647G>T
NM_001166158.2:c.*647G>T	NP_001159630.1:n.*647G>T