Canonical Allele Identifier: CA327031632

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 913336
• ClinVar RCV Id: RCV001166911
• dbSNP Id: rs1003909173
• gnomAD v2: X-19377969-G-A
• gnomAD v3: X-19359851-G-A
• gnomAD v4: X-19359851-G-A
• MyVariant Identifiers: chrX:g.19377969G>A (hg19) ; chrX:g.19359851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359851G>A , CM000685.2:g.19359851G>A	GRCh38
NC_000023.10:g.19377969G>A , CM000685.1:g.19377969G>A	GRCh37
NC_000023.9:g.19287890G>A	NCBI36
NG_016781.1:g.20959G>A
NG_021184.1:g.160411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*198G>A	ENSP00000348062.6:n.*198G>A
ENST00000423505.6:c.*198G>A	ENSP00000406473.2:n.*198G>A
ENST00000696704.1:c.*703G>A	ENSP00000512823.1:n.*703G>A
ENST00000696705.1:c.*826G>A	ENSP00000512824.1:n.*826G>A
ENST00000422285.7:c.*198G>A MANE Select	ENSP00000394382.2:n.*198G>A
ENST00000379806.9:c.*198G>A	ENSP00000369134.5:n.*198G>A
ENST00000422285.6:c.*198G>A	ENSP00000394382.2:n.*198G>A
ENST00000540249.5:c.*198G>A	ENSP00000440761.1:n.*198G>A
ENST00000545074.5:c.*198G>A	ENSP00000438550.1:n.*198G>A
NM_000284.3:c.*198G>A	NP_000275.1:n.*198G>A
NM_001173454.1:c.*198G>A	NP_001166925.1:n.*198G>A
NM_001173455.1:c.*198G>A	NP_001166926.1:n.*198G>A
NM_001173456.1:c.*198G>A	NP_001166927.1:n.*198G>A
XM_011545531.1:c.*198G>A	XP_011543833.1:n.*198G>A
XM_011545532.1:c.*198G>A	XP_011543834.1:n.*198G>A
NM_000284.4:c.*198G>A MANE Select	NP_000275.1:n.*198G>A
NM_001173454.2:c.*198G>A	NP_001166925.1:n.*198G>A
NM_001173455.2:c.*198G>A	NP_001166926.1:n.*198G>A
NM_001173456.2:c.*198G>A	NP_001166927.1:n.*198G>A