Canonical Allele Identifier: CA327023416

Gene: PDHA1

Linked Data

• dbSNP Id: rs978423866
• gnomAD v2: X-19367748-C-T
• gnomAD v3: X-19349630-C-T
• gnomAD v4: X-19349630-C-T
• MyVariant Identifiers: chrX:g.19367748C>T (hg19) ; chrX:g.19349630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19349630C>T , CM000685.2:g.19349630C>T	GRCh38
NC_000023.10:g.19367748C>T , CM000685.1:g.19367748C>T	GRCh37
NC_000023.9:g.19277669C>T	NCBI36
NG_016781.1:g.10738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.117+259C>T	ENSP00000348062.6:n.117+259C>T
ENST00000379805.4:c.117+259C>T	ENSP00000369133.3:n.117+259C>T
ENST00000417819.6:c.201+259C>T	ENSP00000404616.2:n.201+259C>T
ENST00000423505.6:c.231+259C>T	ENSP00000406473.2:n.231+259C>T
ENST00000696704.1:c.117+259C>T	ENSP00000512823.1:n.117+259C>T
ENST00000696705.1:c.117+259C>T	ENSP00000512824.1:n.117+259C>T
ENST00000422285.7:c.117+259C>T MANE Select	ENSP00000394382.2:n.117+259C>T
ENST00000355808.9:c.117+259C>T	ENSP00000348062.5:n.117+259C>T
ENST00000379805.3:c.117+259C>T	ENSP00000369133.3:n.117+259C>T
ENST00000379806.9:c.231+259C>T	ENSP00000369134.5:n.231+259C>T
ENST00000417819.5:c.201+259C>T	ENSP00000404616.1:n.201+259C>T
ENST00000422285.6:c.117+259C>T	ENSP00000394382.2:n.117+259C>T
ENST00000423505.5:c.231+259C>T	ENSP00000406473.1:n.231+259C>T
ENST00000492364.1:n.219+259C>T
ENST00000540249.5:c.117+259C>T	ENSP00000440761.1:n.117+259C>T
ENST00000545074.5:c.117+259C>T	ENSP00000438550.1:n.117+259C>T
NM_000284.3:c.117+259C>T	NP_000275.1:n.117+259C>T
NM_001173454.1:c.231+259C>T	NP_001166925.1:n.231+259C>T
NM_001173455.1:c.117+259C>T	NP_001166926.1:n.117+259C>T
NM_001173456.1:c.117+259C>T	NP_001166927.1:n.117+259C>T
XM_011545531.1:c.231+259C>T	XP_011543833.1:n.231+259C>T
XM_011545532.1:c.231+259C>T	XP_011543834.1:n.231+259C>T
XM_017029574.2:c.231+259C>T	XP_016885063.1:n.231+259C>T
NM_000284.4:c.117+259C>T MANE Select	NP_000275.1:n.117+259C>T
NM_001173454.2:c.231+259C>T	NP_001166925.1:n.231+259C>T
NM_001173455.2:c.117+259C>T	NP_001166926.1:n.117+259C>T
NM_001173456.2:c.117+259C>T	NP_001166927.1:n.117+259C>T