Canonical Allele Identifier: CA1131434884

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063256414
• gnomAD v3: X-19359863-C-CTT
• gnomAD v4: X-19359863-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359864_19359865dup , CM000685.2:g.19359864_19359865dup	GRCh38
NC_000023.10:g.19377982_19377983dup , CM000685.1:g.19377982_19377983dup	GRCh37
NC_000023.9:g.19287903_19287904dup	NCBI36
NG_016781.1:g.20972_20973dup
NG_021184.1:g.160397_160398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*211_*212dup	ENSP00000348062.6:n.*211_*212dup
ENST00000423505.6:c.*211_*212dup	ENSP00000406473.2:n.*211_*212dup
ENST00000696704.1:c.*716_*717dup	ENSP00000512823.1:n.*716_*717dup
ENST00000696705.1:c.*839_*840dup	ENSP00000512824.1:n.*839_*840dup
ENST00000422285.7:c.*211_*212dup MANE Select	ENSP00000394382.2:n.*211_*212dup
ENST00000379806.9:c.*211_*212dup	ENSP00000369134.5:n.*211_*212dup
ENST00000422285.6:c.*211_*212dup	ENSP00000394382.2:n.*211_*212dup
ENST00000540249.5:c.*211_*212dup	ENSP00000440761.1:n.*211_*212dup
ENST00000545074.5:c.*211_*212dup	ENSP00000438550.1:n.*211_*212dup
NM_000284.3:c.*211_*212dup	NP_000275.1:n.*211_*212dup
NM_001173454.1:c.*211_*212dup	NP_001166925.1:n.*211_*212dup
NM_001173455.1:c.*211_*212dup	NP_001166926.1:n.*211_*212dup
NM_001173456.1:c.*211_*212dup	NP_001166927.1:n.*211_*212dup
XM_011545531.1:c.*211_*212dup	XP_011543833.1:n.*211_*212dup
XM_011545532.1:c.*211_*212dup	XP_011543834.1:n.*211_*212dup
NM_000284.4:c.*211_*212dup MANE Select	NP_000275.1:n.*211_*212dup
NM_001173454.2:c.*211_*212dup	NP_001166925.1:n.*211_*212dup
NM_001173455.2:c.*211_*212dup	NP_001166926.1:n.*211_*212dup
NM_001173456.2:c.*211_*212dup	NP_001166927.1:n.*211_*212dup