Canonical Allele Identifier: CA873743318

Gene: PDHA1

Linked Data

• dbSNP Id: rs1003909173
• gnomAD v3: X-19359851-G-C
• gnomAD v4: X-19359851-G-C
• MyVariant Identifiers: chrX:g.19377969G>C (hg19) ; chrX:g.19359851G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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