Canonical Allele Identifier: CA2471562

Gene: PDHB

Linked Data

• dbSNP Id: rs752332234
• ExAC: 3:58416553 C / T
• gnomAD v2: 3-58416553-C-T
• gnomAD v4: 3-58430826-C-T
• MyVariant Identifiers: chr3:g.58416553C>T (hg19) ; chr3:g.58430826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430826C>T , CM000665.2:g.58430826C>T	GRCh38
NC_000003.11:g.58416553C>T , CM000665.1:g.58416553C>T	GRCh37
NC_000003.10:g.58391593C>T	NCBI36
NG_016860.1:g.8027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.420G>A MANE Select	ENSP00000307241.6:p.Val140=
ENST00000302746.10:c.420G>A	ENSP00000307241.6:p.Val140=
ENST00000383714.8:c.366G>A	ENSP00000373220.4:p.Val122=
ENST00000461692.5:n.533G>A
ENST00000469364.5:c.420G>A	ENSP00000419580.1:p.Val140=
ENST00000474765.1:c.366G>A	ENSP00000418448.1:p.Val122=
ENST00000479945.1:n.2825G>A
ENST00000480626.5:n.512G>A
ENST00000485460.5:c.403+17G>A	ENSP00000417267.1:n.403+17G>A
NM_000925.3:c.420G>A	NP_000916.2:p.Val140=
NM_001173468.1:c.403+17G>A	NP_001166939.1:n.403+17G>A
NM_001315536.1:c.366G>A	NP_001302465.1:p.Val122=
NR_033384.1:n.533G>A
NM_000925.4:c.420G>A MANE Select	NP_000916.2:p.Val140=
NM_001173468.2:c.403+17G>A	NP_001166939.1:n.403+17G>A
NM_001315536.2:c.366G>A	NP_001302465.1:p.Val122=
NR_033384.2:n.526G>A