Canonical Allele Identifier: CA327031984

Gene: PDHA1 MAP3K15

Linked Data

• dbSNP Id: rs183744566
• gnomAD v2: X-19378237-G-T
• gnomAD v3: X-19360119-G-T
• gnomAD v4: X-19360119-G-T
• MyVariant Identifiers: chrX:g.19378237G>T (hg19) ; chrX:g.19360119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19360119G>T , CM000685.2:g.19360119G>T	GRCh38
NC_000023.10:g.19378237G>T , CM000685.1:g.19378237G>T	GRCh37
NC_000023.9:g.19288158G>T	NCBI36
NG_016781.1:g.21227G>T
NG_021184.1:g.160143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*466G>T (PDHA1)	ENSP00000348062.6:n.*466G>T
ENST00000423505.6:c.*466G>T (PDHA1)	ENSP00000406473.2:n.*466G>T
ENST00000696704.1:c.*971G>T (PDHA1)	ENSP00000512823.1:n.*971G>T
ENST00000696705.1:c.*1094G>T (PDHA1)	ENSP00000512824.1:n.*1094G>T
ENST00000338883.9:c.*630C>A (MAP3K15) MANE Select	ENSP00000345629.4:n.*630C>A
ENST00000422285.7:c.*466G>T (PDHA1) MANE Select	ENSP00000394382.2:n.*466G>T
ENST00000359173.7:c.3900C>A (MAP3K15)
ENST00000379806.9:c.*466G>T (PDHA1)	ENSP00000369134.5:n.*466G>T
ENST00000422285.6:c.*466G>T (PDHA1)	ENSP00000394382.2:n.*466G>T
ENST00000470101.1:n.1990C>A (MAP3K15)
ENST00000518578.5:n.4634C>A (MAP3K15)
ENST00000540249.5:c.*466G>T (PDHA1)	ENSP00000440761.1:n.*466G>T
ENST00000545074.5:c.*466G>T (PDHA1)	ENSP00000438550.1:n.*466G>T
NM_000284.3:c.*466G>T (PDHA1)	NP_000275.1:n.*466G>T
NM_001001671.3:c.4572C>A (MAP3K15)	NP_001001671.3:n.4572C>A
NM_001173454.1:c.*466G>T (PDHA1)	NP_001166925.1:n.*466G>T
NM_001173455.1:c.*466G>T (PDHA1)	NP_001166926.1:n.*466G>T
NM_001173456.1:c.*466G>T (PDHA1)	NP_001166927.1:n.*466G>T
XM_011545507.1:c.*630C>A (MAP3K15)	XP_011543809.1:n.*630C>A
XM_011545508.1:c.*630C>A (MAP3K15)	XP_011543810.1:n.*630C>A
XM_011545509.1:c.*630C>A (MAP3K15)	XP_011543811.1:n.*630C>A
XM_011545510.1:c.*630C>A (MAP3K15)	XP_011543812.1:n.*630C>A
XM_011545511.1:c.*630C>A (MAP3K15)	XP_011543813.1:n.*630C>A
XM_011545531.1:c.*466G>T (PDHA1)	XP_011543833.1:n.*466G>T
XM_011545532.1:c.*466G>T (PDHA1)	XP_011543834.1:n.*466G>T
XM_011545507.3:c.*630C>A (MAP3K15)	XP_011543809.3:n.*630C>A
XM_011545508.3:c.*630C>A (MAP3K15)	XP_011543810.3:n.*630C>A
XM_011545510.2:c.*630C>A (MAP3K15)	XP_011543812.1:n.*630C>A
XM_011545511.2:c.*630C>A (MAP3K15)	XP_011543813.1:n.*630C>A
NM_000284.4:c.*466G>T (PDHA1) MANE Select	NP_000275.1:n.*466G>T
NM_001001671.4:c.*630C>A (MAP3K15) MANE Select	NP_001001671.3:n.*630C>A
NM_001173454.2:c.*466G>T (PDHA1)	NP_001166925.1:n.*466G>T
NM_001173455.2:c.*466G>T (PDHA1)	NP_001166926.1:n.*466G>T
NM_001173456.2:c.*466G>T (PDHA1)	NP_001166927.1:n.*466G>T