Canonical Allele Identifier: CA327023407

Gene: PDHA1

Linked Data

• dbSNP Id: rs1038718740
• gnomAD v2: X-19367705-GAAAATA-G
• gnomAD v3: X-19349587-GAAAATA-G
• gnomAD v4: X-19349587-GAAAATA-G
• MyVariant Identifiers: chrX:g.19367706_19367711del (hg19) ; chrX:g.19349588_19349593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19349597_19349602del , CM000685.2:g.19349597_19349602del	GRCh38
NC_000023.10:g.19367715_19367720del , CM000685.1:g.19367715_19367720del	GRCh37
NC_000023.9:g.19277636_19277641del	NCBI36
NG_016781.1:g.10705_10710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.117+226_117+231del	ENSP00000348062.6:n.117+226_117+231del
ENST00000379805.4:c.117+226_117+231del	ENSP00000369133.3:n.117+226_117+231del
ENST00000417819.6:c.201+226_201+231del	ENSP00000404616.2:n.201+226_201+231del
ENST00000423505.6:c.231+226_231+231del	ENSP00000406473.2:n.231+226_231+231del
ENST00000696704.1:c.117+226_117+231del	ENSP00000512823.1:n.117+226_117+231del
ENST00000696705.1:c.117+226_117+231del	ENSP00000512824.1:n.117+226_117+231del
ENST00000422285.7:c.117+226_117+231del MANE Select	ENSP00000394382.2:n.117+226_117+231del
ENST00000355808.9:c.117+226_117+231del	ENSP00000348062.5:n.117+226_117+231del
ENST00000379805.3:c.117+226_117+231del	ENSP00000369133.3:n.117+226_117+231del
ENST00000379806.9:c.231+226_231+231del	ENSP00000369134.5:n.231+226_231+231del
ENST00000417819.5:c.201+226_201+231del	ENSP00000404616.1:n.201+226_201+231del
ENST00000422285.6:c.117+226_117+231del	ENSP00000394382.2:n.117+226_117+231del
ENST00000423505.5:c.231+226_231+231del	ENSP00000406473.1:n.231+226_231+231del
ENST00000492364.1:n.219+226_219+231del
ENST00000540249.5:c.117+226_117+231del	ENSP00000440761.1:n.117+226_117+231del
ENST00000545074.5:c.117+226_117+231del	ENSP00000438550.1:n.117+226_117+231del
NM_000284.3:c.117+226_117+231del	NP_000275.1:n.117+226_117+231del
NM_001173454.1:c.231+226_231+231del	NP_001166925.1:n.231+226_231+231del
NM_001173455.1:c.117+226_117+231del	NP_001166926.1:n.117+226_117+231del
NM_001173456.1:c.117+226_117+231del	NP_001166927.1:n.117+226_117+231del
XM_011545531.1:c.231+226_231+231del	XP_011543833.1:n.231+226_231+231del
XM_011545532.1:c.231+226_231+231del	XP_011543834.1:n.231+226_231+231del
XM_017029574.2:c.231+226_231+231del	XP_016885063.1:n.231+226_231+231del
NM_000284.4:c.117+226_117+231del MANE Select	NP_000275.1:n.117+226_117+231del
NM_001173454.2:c.231+226_231+231del	NP_001166925.1:n.231+226_231+231del
NM_001173455.2:c.117+226_117+231del	NP_001166926.1:n.117+226_117+231del
NM_001173456.2:c.117+226_117+231del	NP_001166927.1:n.117+226_117+231del