Canonical Allele Identifier: CA2819936104
Gene: PDHA1 HGNC NCBI
MAP3K15 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19360120T>C , CM000685.2:g.19360120T>C GRCh38
NC_000023.10:g.19378238T>C , CM000685.1:g.19378238T>C GRCh37
NC_000023.9:g.19288159T>C NCBI36
NG_016781.1:g.21228T>C
NG_021184.1:g.160142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355808.10:c.*467T>C (PDHA1) ENSP00000348062.6:n.*467T>C
ENST00000423505.6:c.*467T>C (PDHA1) ENSP00000406473.2:n.*467T>C
ENST00000696704.1:c.*972T>C (PDHA1) ENSP00000512823.1:n.*972T>C
ENST00000696705.1:c.*1095T>C (PDHA1) ENSP00000512824.1:n.*1095T>C
ENST00000338883.9:c.*629A>G (MAP3K15) MANE Select ENSP00000345629.4:n.*629A>G
ENST00000422285.7:c.*467T>C (PDHA1) MANE Select ENSP00000394382.2:n.*467T>C
ENST00000359173.7:c.3899A>G (MAP3K15)
ENST00000379806.9:c.*467T>C (PDHA1) ENSP00000369134.5:n.*467T>C
ENST00000422285.6:c.*467T>C (PDHA1) ENSP00000394382.2:n.*467T>C
ENST00000470101.1:n.1989A>G (MAP3K15)
ENST00000518578.5:n.4633A>G (MAP3K15)
ENST00000540249.5:c.*467T>C (PDHA1) ENSP00000440761.1:n.*467T>C
ENST00000545074.5:c.*467T>C (PDHA1) ENSP00000438550.1:n.*467T>C
NM_000284.3:c.*467T>C (PDHA1) NP_000275.1:n.*467T>C
NM_001001671.3:c.4571A>G (MAP3K15) NP_001001671.3:n.4571A>G
NM_001173454.1:c.*467T>C (PDHA1) NP_001166925.1:n.*467T>C
NM_001173455.1:c.*467T>C (PDHA1) NP_001166926.1:n.*467T>C
NM_001173456.1:c.*467T>C (PDHA1) NP_001166927.1:n.*467T>C
XM_011545507.1:c.*629A>G (MAP3K15) XP_011543809.1:n.*629A>G
XM_011545508.1:c.*629A>G (MAP3K15) XP_011543810.1:n.*629A>G
XM_011545509.1:c.*629A>G (MAP3K15) XP_011543811.1:n.*629A>G
XM_011545510.1:c.*629A>G (MAP3K15) XP_011543812.1:n.*629A>G
XM_011545511.1:c.*629A>G (MAP3K15) XP_011543813.1:n.*629A>G
XM_011545531.1:c.*467T>C (PDHA1) XP_011543833.1:n.*467T>C
XM_011545532.1:c.*467T>C (PDHA1) XP_011543834.1:n.*467T>C
XM_011545507.3:c.*629A>G (MAP3K15) XP_011543809.3:n.*629A>G
XM_011545508.3:c.*629A>G (MAP3K15) XP_011543810.3:n.*629A>G
XM_011545510.2:c.*629A>G (MAP3K15) XP_011543812.1:n.*629A>G
XM_011545511.2:c.*629A>G (MAP3K15) XP_011543813.1:n.*629A>G
NM_000284.4:c.*467T>C (PDHA1) MANE Select NP_000275.1:n.*467T>C
NM_001001671.4:c.*629A>G (MAP3K15) MANE Select NP_001001671.3:n.*629A>G
NM_001173454.2:c.*467T>C (PDHA1) NP_001166925.1:n.*467T>C
NM_001173455.2:c.*467T>C (PDHA1) NP_001166926.1:n.*467T>C
NM_001173456.2:c.*467T>C (PDHA1) NP_001166927.1:n.*467T>C