Canonical Allele Identifier: CA10372281

Gene: PDK3

Linked Data

• ClinVar Variation Id: 382040
• ClinVar RCV Id: RCV000432171 ; RCV000513112 ; RCV001081421 ; RCV001173742 ; RCV003912670
• dbSNP Id: rs138321172
• ExAC: X:24521499 A / G
• gnomAD v2: X-24521499-A-G
• gnomAD v3: X-24503382-A-G
• gnomAD v4: X-24503382-A-G
• MyVariant Identifiers: chrX:g.24521499A>G (hg19) ; chrX:g.24503382A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.24503382A>G , CM000685.2:g.24503382A>G	GRCh38
NC_000023.10:g.24521499A>G , CM000685.1:g.24521499A>G	GRCh37
NC_000023.9:g.24431420A>G	NCBI36
NG_016762.1:g.43156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379162.9:c.376A>G MANE Select	ENSP00000368460.4:p.Met126Val
ENST00000568479.2:c.376A>G	ENSP00000498864.1:p.Met126Val
ENST00000648777.1:c.376A>G	ENSP00000497727.1:p.Met126Val
ENST00000379162.8:c.376A>G	ENSP00000368460.4:p.Met126Val
ENST00000441463.2:c.376A>G	ENSP00000387536.2:p.Met126Val
NM_001142386.2:c.376A>G	NP_001135858.1:p.Met126Val
NM_005391.4:c.376A>G	NP_005382.1:p.Met126Val
NM_001142386.3:c.376A>G	NP_001135858.1:p.Met126Val
NM_005391.5:c.376A>G MANE Select	NP_005382.1:p.Met126Val