Canonical Allele Identifier: CA1131434938

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063258895
• gnomAD v3: X-19359976-G-C
• gnomAD v4: X-19359976-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359976G>C , CM000685.2:g.19359976G>C	GRCh38
NC_000023.10:g.19378094G>C , CM000685.1:g.19378094G>C	GRCh37
NC_000023.9:g.19288015G>C	NCBI36
NG_016781.1:g.21084G>C
NG_021184.1:g.160286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*323G>C	ENSP00000348062.6:n.*323G>C
ENST00000423505.6:c.*323G>C	ENSP00000406473.2:n.*323G>C
ENST00000696704.1:c.*828G>C	ENSP00000512823.1:n.*828G>C
ENST00000696705.1:c.*951G>C	ENSP00000512824.1:n.*951G>C
ENST00000422285.7:c.*323G>C MANE Select	ENSP00000394382.2:n.*323G>C
ENST00000379806.9:c.*323G>C	ENSP00000369134.5:n.*323G>C
ENST00000422285.6:c.*323G>C	ENSP00000394382.2:n.*323G>C
ENST00000540249.5:c.*323G>C	ENSP00000440761.1:n.*323G>C
ENST00000545074.5:c.*323G>C	ENSP00000438550.1:n.*323G>C
NM_000284.3:c.*323G>C	NP_000275.1:n.*323G>C
NM_001173454.1:c.*323G>C	NP_001166925.1:n.*323G>C
NM_001173455.1:c.*323G>C	NP_001166926.1:n.*323G>C
NM_001173456.1:c.*323G>C	NP_001166927.1:n.*323G>C
XM_011545531.1:c.*323G>C	XP_011543833.1:n.*323G>C
XM_011545532.1:c.*323G>C	XP_011543834.1:n.*323G>C
NM_000284.4:c.*323G>C MANE Select	NP_000275.1:n.*323G>C
NM_001173454.2:c.*323G>C	NP_001166925.1:n.*323G>C
NM_001173455.2:c.*323G>C	NP_001166926.1:n.*323G>C
NM_001173456.2:c.*323G>C	NP_001166927.1:n.*323G>C