Canonical Allele Identifier: CA2693251627
Gene: PDHA1 HGNC NCBI
MAP3K15 HGNC NCBI

Linked Data

gnomAD v4: X-19360088-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19360088G>A , CM000685.2:g.19360088G>A GRCh38
NC_000023.10:g.19378206G>A , CM000685.1:g.19378206G>A GRCh37
NC_000023.9:g.19288127G>A NCBI36
NG_016781.1:g.21196G>A
NG_021184.1:g.160174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*435G>A (PDHA1) ENSP00000348062.6:n.*435G>A
ENST00000423505.6:c.*435G>A (PDHA1) ENSP00000406473.2:n.*435G>A
ENST00000696704.1:c.*940G>A (PDHA1) ENSP00000512823.1:n.*940G>A
ENST00000696705.1:c.*1063G>A (PDHA1) ENSP00000512824.1:n.*1063G>A
ENST00000338883.9:c.*661C>T (MAP3K15) MANE Select ENSP00000345629.4:n.*661C>T
ENST00000422285.7:c.*435G>A (PDHA1) MANE Select ENSP00000394382.2:n.*435G>A
ENST00000359173.7:c.3931C>T (MAP3K15)
ENST00000379806.9:c.*435G>A (PDHA1) ENSP00000369134.5:n.*435G>A
ENST00000422285.6:c.*435G>A (PDHA1) ENSP00000394382.2:n.*435G>A
ENST00000470101.1:n.2021C>T (MAP3K15)
ENST00000518578.5:n.4665C>T (MAP3K15)
ENST00000540249.5:c.*435G>A (PDHA1) ENSP00000440761.1:n.*435G>A
ENST00000545074.5:c.*435G>A (PDHA1) ENSP00000438550.1:n.*435G>A
NM_000284.3:c.*435G>A (PDHA1) NP_000275.1:n.*435G>A
NM_001001671.3:c.4603C>T (MAP3K15) NP_001001671.3:n.4603C>T
NM_001173454.1:c.*435G>A (PDHA1) NP_001166925.1:n.*435G>A
NM_001173455.1:c.*435G>A (PDHA1) NP_001166926.1:n.*435G>A
NM_001173456.1:c.*435G>A (PDHA1) NP_001166927.1:n.*435G>A
XM_011545507.1:c.*661C>T (MAP3K15) XP_011543809.1:n.*661C>T
XM_011545508.1:c.*661C>T (MAP3K15) XP_011543810.1:n.*661C>T
XM_011545509.1:c.*661C>T (MAP3K15) XP_011543811.1:n.*661C>T
XM_011545510.1:c.*661C>T (MAP3K15) XP_011543812.1:n.*661C>T
XM_011545511.1:c.*661C>T (MAP3K15) XP_011543813.1:n.*661C>T
XM_011545531.1:c.*435G>A (PDHA1) XP_011543833.1:n.*435G>A
XM_011545532.1:c.*435G>A (PDHA1) XP_011543834.1:n.*435G>A
XM_011545507.3:c.*661C>T (MAP3K15) XP_011543809.3:n.*661C>T
XM_011545508.3:c.*661C>T (MAP3K15) XP_011543810.3:n.*661C>T
XM_011545510.2:c.*661C>T (MAP3K15) XP_011543812.1:n.*661C>T
XM_011545511.2:c.*661C>T (MAP3K15) XP_011543813.1:n.*661C>T
NM_000284.4:c.*435G>A (PDHA1) MANE Select NP_000275.1:n.*435G>A
NM_001001671.4:c.*661C>T (MAP3K15) MANE Select NP_001001671.3:n.*661C>T
NM_001173454.2:c.*435G>A (PDHA1) NP_001166925.1:n.*435G>A
NM_001173455.2:c.*435G>A (PDHA1) NP_001166926.1:n.*435G>A
NM_001173456.2:c.*435G>A (PDHA1) NP_001166927.1:n.*435G>A