Canonical Allele Identifier: CA2613091877

Gene: PDHX

Linked Data

• gnomAD v4: 11-34916611-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916611G>T , CM000673.2:g.34916611G>T	GRCh38
NC_000011.9:g.34938158G>T , CM000673.1:g.34938158G>T	GRCh37
NC_000011.8:g.34894734G>T	NCBI36
NG_013368.1:g.5482G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.-21+125G>T	ENSP00000389404.3:n.-21+125G>T
ENST00000227868.8:c.-45G>T	ENSP00000227868.4:n.-45G>T
ENST00000448838.7:c.115+125G>T	ENSP00000389404.2:n.115+125G>T
ENST00000533550.5:c.-21+673G>T	ENSP00000431281.1:n.-21+673G>T
NM_001135024.1:c.115+125G>T	NP_001128496.1:n.115+125G>T
NM_001166158.1:c.-45G>T	NP_001159630.1:n.-45G>T
NM_003477.2:c.-45G>T	NP_003468.2:n.-45G>T
XM_011520390.1:c.-21+673G>T	XP_011518692.1:n.-21+673G>T
NM_001135024.2:c.-21+125G>T	NP_001128496.2:n.-21+125G>T