Canonical Allele Identifier: CA5945692

Gene: PDHX

Linked Data

• dbSNP Id: rs764604412
• ExAC: 11:34938157 T / C
• gnomAD v2: 11-34938157-T-C
• gnomAD v4: 11-34916610-T-C
• MyVariant Identifiers: chr11:g.34938157T>C (hg19) ; chr11:g.34916610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916610T>C , CM000673.2:g.34916610T>C	GRCh38
NC_000011.9:g.34938157T>C , CM000673.1:g.34938157T>C	GRCh37
NC_000011.8:g.34894733T>C	NCBI36
NG_013368.1:g.5481T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.-21+124T>C	ENSP00000389404.3:n.-21+124T>C
ENST00000227868.8:c.-46T>C	ENSP00000227868.4:n.-46T>C
ENST00000448838.7:c.115+124T>C	ENSP00000389404.2:n.115+124T>C
ENST00000533550.5:c.-21+672T>C	ENSP00000431281.1:n.-21+672T>C
NM_001135024.1:c.115+124T>C	NP_001128496.1:n.115+124T>C
NM_001166158.1:c.-46T>C	NP_001159630.1:n.-46T>C
NM_003477.2:c.-46T>C	NP_003468.2:n.-46T>C
XM_011520390.1:c.-21+672T>C	XP_011518692.1:n.-21+672T>C
NM_001135024.2:c.-21+124T>C	NP_001128496.2:n.-21+124T>C