Canonical Allele Identifier: CA473615495

Gene: PDHX

Linked Data

• dbSNP Id: rs1415146894
• gnomAD v2: 11-34938301-T-G
• gnomAD v4: 11-34916754-T-G
• MyVariant Identifiers: chr11:g.34938301T>G (hg19) ; chr11:g.34916754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916754T>G , CM000673.2:g.34916754T>G	GRCh38
NC_000011.9:g.34938301T>G , CM000673.1:g.34938301T>G	GRCh37
NC_000011.8:g.34894877T>G	NCBI36
NG_013368.1:g.5625T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.-21+268T>G	ENSP00000389404.3:n.-21+268T>G
ENST00000227868.9:c.99T>G MANE Select	ENSP00000227868.4:p.Leu33=
ENST00000227868.8:c.99T>G	ENSP00000227868.4:p.Leu33=
ENST00000430469.6:c.99T>G	ENSP00000415695.2:p.Leu33=
ENST00000448838.7:c.115+268T>G	ENSP00000389404.2:n.115+268T>G
ENST00000533262.1:c.99T>G	ENSP00000432277.1:p.Leu33=
ENST00000533550.5:c.-21+816T>G	ENSP00000431281.1:n.-21+816T>G
NM_001135024.1:c.115+268T>G	NP_001128496.1:n.115+268T>G
NM_001166158.1:c.99T>G	NP_001159630.1:p.Leu33=
NM_003477.2:c.99T>G	NP_003468.2:p.Leu33=
XM_011520390.1:c.-21+816T>G	XP_011518692.1:n.-21+816T>G
NM_003477.3:c.99T>G MANE Select	NP_003468.2:p.Leu33=
NM_001135024.2:c.-21+268T>G	NP_001128496.2:n.-21+268T>G
NM_001166158.2:c.99T>G	NP_001159630.1:p.Leu33=