Canonical Allele Identifier: CA675844247

Gene: PDHX

Linked Data

• dbSNP Id: rs1477684263
• gnomAD v4: 11-34916521-G-T
• MyVariant Identifiers: chr11:g.34938068G>T (hg19) ; chr11:g.34916521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916521G>T , CM000673.2:g.34916521G>T	GRCh38
NC_000011.9:g.34938068G>T , CM000673.1:g.34938068G>T	GRCh37
NC_000011.8:g.34894644G>T	NCBI36
NG_013368.1:g.5392G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+35G>T	ENSP00000389404.3:n.-21+35G>T
ENST00000448838.7:c.115+35G>T	ENSP00000389404.2:n.115+35G>T
ENST00000533550.5:c.-21+583G>T	ENSP00000431281.1:n.-21+583G>T
NM_001135024.1:c.115+35G>T	NP_001128496.1:n.115+35G>T
NM_001166158.1:c.-135G>T	NP_001159630.1:n.-135G>T
NM_003477.2:c.-135G>T	NP_003468.2:n.-135G>T
XM_011520390.1:c.-21+583G>T	XP_011518692.1:n.-21+583G>T
NM_001135024.2:c.-21+35G>T	NP_001128496.2:n.-21+35G>T