Canonical Allele Identifier: CA327031634

Gene: PDHA1

Linked Data

• dbSNP Id: rs1019221074
• gnomAD v3: X-19359884-C-A
• gnomAD v4: X-19359884-C-A
• MyVariant Identifiers: chrX:g.19378002C>A (hg19) ; chrX:g.19359884C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359884C>A , CM000685.2:g.19359884C>A	GRCh38
NC_000023.10:g.19378002C>A , CM000685.1:g.19378002C>A	GRCh37
NC_000023.9:g.19287923C>A	NCBI36
NG_016781.1:g.20992C>A
NG_021184.1:g.160378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*231C>A	ENSP00000348062.6:n.*231C>A
ENST00000423505.6:c.*231C>A	ENSP00000406473.2:n.*231C>A
ENST00000696704.1:c.*736C>A	ENSP00000512823.1:n.*736C>A
ENST00000696705.1:c.*859C>A	ENSP00000512824.1:n.*859C>A
ENST00000422285.7:c.*231C>A MANE Select	ENSP00000394382.2:n.*231C>A
ENST00000379806.9:c.*231C>A	ENSP00000369134.5:n.*231C>A
ENST00000422285.6:c.*231C>A	ENSP00000394382.2:n.*231C>A
ENST00000540249.5:c.*231C>A	ENSP00000440761.1:n.*231C>A
ENST00000545074.5:c.*231C>A	ENSP00000438550.1:n.*231C>A
NM_000284.3:c.*231C>A	NP_000275.1:n.*231C>A
NM_001173454.1:c.*231C>A	NP_001166925.1:n.*231C>A
NM_001173455.1:c.*231C>A	NP_001166926.1:n.*231C>A
NM_001173456.1:c.*231C>A	NP_001166927.1:n.*231C>A
XM_011545531.1:c.*231C>A	XP_011543833.1:n.*231C>A
XM_011545532.1:c.*231C>A	XP_011543834.1:n.*231C>A
NM_000284.4:c.*231C>A MANE Select	NP_000275.1:n.*231C>A
NM_001173454.2:c.*231C>A	NP_001166925.1:n.*231C>A
NM_001173455.2:c.*231C>A	NP_001166926.1:n.*231C>A
NM_001173456.2:c.*231C>A	NP_001166927.1:n.*231C>A