Canonical Allele Identifier: CA323702

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214931
• ClinVar RCV Id: RCV000199164 ; RCV002054336
• dbSNP Id: rs370785632
• ExAC: X:19375855 G / A
• gnomAD v2: X-19375855-G-A
• gnomAD v3: X-19357737-G-A
• gnomAD v4: X-19357737-G-A
• MyVariant Identifiers: chrX:g.19375855G>A (hg19) ; chrX:g.19357737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357737G>A , CM000685.2:g.19357737G>A	GRCh38
NC_000023.10:g.19375855G>A , CM000685.1:g.19375855G>A	GRCh37
NC_000023.9:g.19285776G>A	NCBI36
NG_016781.1:g.18845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.920+18G>A	ENSP00000348062.6:n.920+18G>A
ENST00000379805.4:c.*591+18G>A	ENSP00000369133.3:n.*591+18G>A
ENST00000417819.6:c.983+18G>A	ENSP00000404616.2:n.983+18G>A
ENST00000423505.6:c.1013+18G>A	ENSP00000406473.2:n.1013+18G>A
ENST00000481733.2:n.694+18G>A
ENST00000696704.1:c.*231+18G>A	ENSP00000512823.1:n.*231+18G>A
ENST00000696705.1:c.*354+18G>A	ENSP00000512824.1:n.*354+18G>A
ENST00000422285.7:c.899+18G>A MANE Select	ENSP00000394382.2:n.899+18G>A
ENST00000379804.1:c.56+18G>A	ENSP00000369132.1:n.56+18G>A
ENST00000379806.9:c.1013+18G>A	ENSP00000369134.5:n.1013+18G>A
ENST00000422285.6:c.899+18G>A	ENSP00000394382.2:n.899+18G>A
ENST00000478795.1:n.338+18G>A
ENST00000481733.1:n.327+18G>A
ENST00000540249.5:c.806+18G>A	ENSP00000440761.1:n.806+18G>A
ENST00000545074.5:c.920+18G>A	ENSP00000438550.1:n.920+18G>A
NM_000284.3:c.899+18G>A	NP_000275.1:n.899+18G>A
NM_001173454.1:c.1013+18G>A	NP_001166925.1:n.1013+18G>A
NM_001173455.1:c.920+18G>A	NP_001166926.1:n.920+18G>A
NM_001173456.1:c.806+18G>A	NP_001166927.1:n.806+18G>A
XM_011545531.1:c.1034+18G>A	XP_011543833.1:n.1034+18G>A
XM_011545532.1:c.941+18G>A	XP_011543834.1:n.941+18G>A
XM_017029574.2:c.920+18G>A	XP_016885063.1:n.920+18G>A
NM_000284.4:c.899+18G>A MANE Select	NP_000275.1:n.899+18G>A
NM_001173454.2:c.1013+18G>A	NP_001166925.1:n.1013+18G>A
NM_001173455.2:c.920+18G>A	NP_001166926.1:n.920+18G>A
NM_001173456.2:c.806+18G>A	NP_001166927.1:n.806+18G>A