Canonical Allele Identifier: CA873743330

Gene: PDHA1

Linked Data

• dbSNP Id: rs1158350330
• gnomAD v3: X-19359864-TTAAAA-T
• gnomAD v4: X-19359864-TTAAAA-T
• MyVariant Identifiers: chrX:g.19377983_19377987del (hg19) ; chrX:g.19359865_19359869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359867_19359871del , CM000685.2:g.19359867_19359871del	GRCh38
NC_000023.10:g.19377985_19377989del , CM000685.1:g.19377985_19377989del	GRCh37
NC_000023.9:g.19287906_19287910del	NCBI36
NG_016781.1:g.20975_20979del
NG_021184.1:g.160393_160397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*214_*218del	ENSP00000348062.6:n.*214_*218del
ENST00000423505.6:c.*214_*218del	ENSP00000406473.2:n.*214_*218del
ENST00000696704.1:c.*719_*723del	ENSP00000512823.1:n.*719_*723del
ENST00000696705.1:c.*842_*846del	ENSP00000512824.1:n.*842_*846del
ENST00000422285.7:c.*214_*218del MANE Select	ENSP00000394382.2:n.*214_*218del
ENST00000379806.9:c.*214_*218del	ENSP00000369134.5:n.*214_*218del
ENST00000422285.6:c.*214_*218del	ENSP00000394382.2:n.*214_*218del
ENST00000540249.5:c.*214_*218del	ENSP00000440761.1:n.*214_*218del
ENST00000545074.5:c.*214_*218del	ENSP00000438550.1:n.*214_*218del
NM_000284.3:c.*214_*218del	NP_000275.1:n.*214_*218del
NM_001173454.1:c.*214_*218del	NP_001166925.1:n.*214_*218del
NM_001173455.1:c.*214_*218del	NP_001166926.1:n.*214_*218del
NM_001173456.1:c.*214_*218del	NP_001166927.1:n.*214_*218del
XM_011545531.1:c.*214_*218del	XP_011543833.1:n.*214_*218del
XM_011545532.1:c.*214_*218del	XP_011543834.1:n.*214_*218del
NM_000284.4:c.*214_*218del MANE Select	NP_000275.1:n.*214_*218del
NM_001173454.2:c.*214_*218del	NP_001166925.1:n.*214_*218del
NM_001173455.2:c.*214_*218del	NP_001166926.1:n.*214_*218del
NM_001173456.2:c.*214_*218del	NP_001166927.1:n.*214_*218del