Canonical Allele Identifier: CA915848920

Gene: PDHA1

Linked Data

• dbSNP Id: rs1569194823
• gnomAD v2: X-19378039-G-T
• gnomAD v3: X-19359921-G-T
• gnomAD v4: X-19359921-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359921G>T , CM000685.2:g.19359921G>T	GRCh38
NC_000023.10:g.19378039G>T , CM000685.1:g.19378039G>T	GRCh37
NC_000023.9:g.19287960G>T	NCBI36
NG_016781.1:g.21029G>T
NG_021184.1:g.160341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*268G>T	ENSP00000348062.6:n.*268G>T
ENST00000423505.6:c.*268G>T	ENSP00000406473.2:n.*268G>T
ENST00000696704.1:c.*773G>T	ENSP00000512823.1:n.*773G>T
ENST00000696705.1:c.*896G>T	ENSP00000512824.1:n.*896G>T
ENST00000422285.7:c.*268G>T MANE Select	ENSP00000394382.2:n.*268G>T
ENST00000379806.9:c.*268G>T	ENSP00000369134.5:n.*268G>T
ENST00000422285.6:c.*268G>T	ENSP00000394382.2:n.*268G>T
ENST00000540249.5:c.*268G>T	ENSP00000440761.1:n.*268G>T
ENST00000545074.5:c.*268G>T	ENSP00000438550.1:n.*268G>T
NM_000284.3:c.*268G>T	NP_000275.1:n.*268G>T
NM_001173454.1:c.*268G>T	NP_001166925.1:n.*268G>T
NM_001173455.1:c.*268G>T	NP_001166926.1:n.*268G>T
NM_001173456.1:c.*268G>T	NP_001166927.1:n.*268G>T
XM_011545531.1:c.*268G>T	XP_011543833.1:n.*268G>T
XM_011545532.1:c.*268G>T	XP_011543834.1:n.*268G>T
NM_000284.4:c.*268G>T MANE Select	NP_000275.1:n.*268G>T
NM_001173454.2:c.*268G>T	NP_001166925.1:n.*268G>T
NM_001173455.2:c.*268G>T	NP_001166926.1:n.*268G>T
NM_001173456.2:c.*268G>T	NP_001166927.1:n.*268G>T