Canonical Allele Identifier: CA2693251611

Gene: PDHA1 MAP3K15

Linked Data

• gnomAD v4: X-19360064-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360064G>C , CM000685.2:g.19360064G>C	GRCh38
NC_000023.10:g.19378182G>C , CM000685.1:g.19378182G>C	GRCh37
NC_000023.9:g.19288103G>C	NCBI36
NG_016781.1:g.21172G>C
NG_021184.1:g.160198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*411G>C (PDHA1)	ENSP00000348062.6:n.*411G>C
ENST00000423505.6:c.*411G>C (PDHA1)	ENSP00000406473.2:n.*411G>C
ENST00000696704.1:c.*916G>C (PDHA1)	ENSP00000512823.1:n.*916G>C
ENST00000696705.1:c.*1039G>C (PDHA1)	ENSP00000512824.1:n.*1039G>C
ENST00000338883.9:c.*685C>G (MAP3K15) MANE Select	ENSP00000345629.4:n.*685C>G
ENST00000422285.7:c.*411G>C (PDHA1) MANE Select	ENSP00000394382.2:n.*411G>C
ENST00000359173.7:c.3955C>G (MAP3K15)
ENST00000379806.9:c.*411G>C (PDHA1)	ENSP00000369134.5:n.*411G>C
ENST00000422285.6:c.*411G>C (PDHA1)	ENSP00000394382.2:n.*411G>C
ENST00000470101.1:n.2045C>G (MAP3K15)
ENST00000518578.5:n.4689C>G (MAP3K15)
ENST00000540249.5:c.*411G>C (PDHA1)	ENSP00000440761.1:n.*411G>C
ENST00000545074.5:c.*411G>C (PDHA1)	ENSP00000438550.1:n.*411G>C
NM_000284.3:c.*411G>C (PDHA1)	NP_000275.1:n.*411G>C
NM_001001671.3:c.4627C>G (MAP3K15)	NP_001001671.3:n.4627C>G
NM_001173454.1:c.*411G>C (PDHA1)	NP_001166925.1:n.*411G>C
NM_001173455.1:c.*411G>C (PDHA1)	NP_001166926.1:n.*411G>C
NM_001173456.1:c.*411G>C (PDHA1)	NP_001166927.1:n.*411G>C
XM_011545507.1:c.*685C>G (MAP3K15)	XP_011543809.1:n.*685C>G
XM_011545508.1:c.*685C>G (MAP3K15)	XP_011543810.1:n.*685C>G
XM_011545509.1:c.*685C>G (MAP3K15)	XP_011543811.1:n.*685C>G
XM_011545510.1:c.*685C>G (MAP3K15)	XP_011543812.1:n.*685C>G
XM_011545511.1:c.*685C>G (MAP3K15)	XP_011543813.1:n.*685C>G
XM_011545531.1:c.*411G>C (PDHA1)	XP_011543833.1:n.*411G>C
XM_011545532.1:c.*411G>C (PDHA1)	XP_011543834.1:n.*411G>C
XM_011545507.3:c.*685C>G (MAP3K15)	XP_011543809.3:n.*685C>G
XM_011545508.3:c.*685C>G (MAP3K15)	XP_011543810.3:n.*685C>G
XM_011545510.2:c.*685C>G (MAP3K15)	XP_011543812.1:n.*685C>G
XM_011545511.2:c.*685C>G (MAP3K15)	XP_011543813.1:n.*685C>G
NM_000284.4:c.*411G>C (PDHA1) MANE Select	NP_000275.1:n.*411G>C
NM_001001671.4:c.*685C>G (MAP3K15) MANE Select	NP_001001671.3:n.*685C>G
NM_001173454.2:c.*411G>C (PDHA1)	NP_001166925.1:n.*411G>C
NM_001173455.2:c.*411G>C (PDHA1)	NP_001166926.1:n.*411G>C
NM_001173456.2:c.*411G>C (PDHA1)	NP_001166927.1:n.*411G>C