Canonical Allele Identifier: CA640857090

Gene: PDHA1

Linked Data

• dbSNP Id: rs1569193955
• gnomAD v2: X-19377567-G-GTTCATTCTAAAACCTTTTACACTGTTACCTAA
• gnomAD v4: X-19359449-G-GTTCATTCTAAAACCTTTTACACTGTTACCTAA
• MyVariant Identifiers: chrX:g.19377567_19377568insTTCATTCTAAAACCTTTTACACTGTTACCTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359452_19359483dup , CM000685.2:g.19359452_19359483dup	GRCh38
NC_000023.10:g.19377570_19377601dup , CM000685.1:g.19377570_19377601dup	GRCh37
NC_000023.9:g.19287491_19287522dup	NCBI36
NG_016781.1:g.20560_20591dup
NG_021184.1:g.160781_160812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1030-37_1030-6dup	ENSP00000348062.6:n.1030-37_1030-6dup
ENST00000379805.4:c.*701-37_*701-6dup	ENSP00000369133.3:n.*701-37_*701-6dup
ENST00000417819.6:c.1093-37_1093-6dup	ENSP00000404616.2:n.1093-37_1093-6dup
ENST00000423505.6:c.1123-37_1123-6dup	ENSP00000406473.2:n.1123-37_1123-6dup
ENST00000481733.2:n.804-37_804-6dup
ENST00000696704.1:c.*341-37_*341-6dup	ENSP00000512823.1:n.*341-37_*341-6dup
ENST00000696705.1:c.*464-37_*464-6dup	ENSP00000512824.1:n.*464-37_*464-6dup
ENST00000422285.7:c.1009-37_1009-6dup MANE Select	ENSP00000394382.2:n.1009-37_1009-6dup
ENST00000379804.1:c.166-37_166-6dup	ENSP00000369132.1:n.166-37_166-6dup
ENST00000379806.9:c.1123-37_1123-6dup	ENSP00000369134.5:n.1123-37_1123-6dup
ENST00000422285.6:c.1009-37_1009-6dup	ENSP00000394382.2:n.1009-37_1009-6dup
ENST00000478795.1:n.448-37_448-6dup
ENST00000540249.5:c.916-37_916-6dup	ENSP00000440761.1:n.916-37_916-6dup
ENST00000545074.5:c.1030-37_1030-6dup	ENSP00000438550.1:n.1030-37_1030-6dup
NM_000284.3:c.1009-37_1009-6dup	NP_000275.1:n.1009-37_1009-6dup
NM_001173454.1:c.1123-37_1123-6dup	NP_001166925.1:n.1123-37_1123-6dup
NM_001173455.1:c.1030-37_1030-6dup	NP_001166926.1:n.1030-37_1030-6dup
NM_001173456.1:c.916-37_916-6dup	NP_001166927.1:n.916-37_916-6dup
XM_011545531.1:c.1144-37_1144-6dup	XP_011543833.1:n.1144-37_1144-6dup
XM_011545532.1:c.1051-37_1051-6dup	XP_011543834.1:n.1051-37_1051-6dup
XM_017029574.2:c.1030-37_1030-6dup	XP_016885063.1:n.1030-37_1030-6dup
NM_000284.4:c.1009-37_1009-6dup MANE Select	NP_000275.1:n.1009-37_1009-6dup
NM_001173454.2:c.1123-37_1123-6dup	NP_001166925.1:n.1123-37_1123-6dup
NM_001173455.2:c.1030-37_1030-6dup	NP_001166926.1:n.1030-37_1030-6dup
NM_001173456.2:c.916-37_916-6dup	NP_001166927.1:n.916-37_916-6dup