Canonical Allele Identifier: CA640522727

Gene: PDHA1

Linked Data

• dbSNP Id: rs1460910334
• gnomAD v2: X-19377925-T-TATCA
• gnomAD v3: X-19359807-T-TATCA
• gnomAD v4: X-19359807-T-TATCA
• MyVariant Identifiers: chrX:g.19377925_19377926insATCA (hg19) ; chrX:g.19359807_19359808insATCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359807_19359808insATCA , CM000685.2:g.19359807_19359808insATCA	GRCh38
NC_000023.10:g.19377925_19377926insATCA , CM000685.1:g.19377925_19377926insATCA	GRCh37
NC_000023.9:g.19287846_19287847insATCA	NCBI36
NG_016781.1:g.20915_20916insATCA
NG_021184.1:g.160454_160455insTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*154_*155insATCA	ENSP00000348062.6:n.*154_*155insATCA
ENST00000417819.6:c.*154_*155insATCA	ENSP00000404616.2:n.*154_*155insATCA
ENST00000423505.6:c.*154_*155insATCA	ENSP00000406473.2:n.*154_*155insATCA
ENST00000481733.2:n.1122_1123insATCA
ENST00000696704.1:c.*659_*660insATCA	ENSP00000512823.1:n.*659_*660insATCA
ENST00000696705.1:c.*782_*783insATCA	ENSP00000512824.1:n.*782_*783insATCA
ENST00000422285.7:c.*154_*155insATCA MANE Select	ENSP00000394382.2:n.*154_*155insATCA
ENST00000379804.1:c.*154_*155insATCA	ENSP00000369132.1:n.*154_*155insATCA
ENST00000379806.9:c.*154_*155insATCA	ENSP00000369134.5:n.*154_*155insATCA
ENST00000422285.6:c.*154_*155insATCA	ENSP00000394382.2:n.*154_*155insATCA
ENST00000478795.1:n.766_767insATCA
ENST00000540249.5:c.*154_*155insATCA	ENSP00000440761.1:n.*154_*155insATCA
ENST00000545074.5:c.*154_*155insATCA	ENSP00000438550.1:n.*154_*155insATCA
NM_000284.3:c.*154_*155insATCA	NP_000275.1:n.*154_*155insATCA
NM_001173454.1:c.*154_*155insATCA	NP_001166925.1:n.*154_*155insATCA
NM_001173455.1:c.*154_*155insATCA	NP_001166926.1:n.*154_*155insATCA
NM_001173456.1:c.*154_*155insATCA	NP_001166927.1:n.*154_*155insATCA
XM_011545531.1:c.*154_*155insATCA	XP_011543833.1:n.*154_*155insATCA
XM_011545532.1:c.*154_*155insATCA	XP_011543834.1:n.*154_*155insATCA
XM_017029574.2:c.*154_*155insATCA	XP_016885063.1:n.*154_*155insATCA
NM_000284.4:c.*154_*155insATCA MANE Select	NP_000275.1:n.*154_*155insATCA
NM_001173454.2:c.*154_*155insATCA	NP_001166925.1:n.*154_*155insATCA
NM_001173455.2:c.*154_*155insATCA	NP_001166926.1:n.*154_*155insATCA
NM_001173456.2:c.*154_*155insATCA	NP_001166927.1:n.*154_*155insATCA