Canonical Allele Identifier: CA415775606

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1931443
• ClinVar RCV Id: RCV002605526
• dbSNP Id: rs1261670377
• gnomAD v2: 1-2339933-A-G
• gnomAD v4: 1-2408494-A-G
• MyVariant Identifiers: chr1:g.2339933A>G (hg19) ; chr1:g.2408494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408494A>G , CM000663.2:g.2408494A>G	GRCh38
NC_000001.10:g.2339933A>G , CM000663.1:g.2339933A>G	GRCh37
NC_000001.9:g.2329793A>G	NCBI36
NG_008342.1:g.9078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.558T>C	ENSP00000288774.3:p.Gly186=
ENST00000447513.7:c.558T>C MANE Select	ENSP00000407922.2:p.Gly186=
ENST00000650293.1:c.512T>C
ENST00000288774.7:c.558T>C	ENSP00000288774.3:p.Gly186=
ENST00000447513.6:c.558T>C	ENSP00000407922.2:p.Gly186=
ENST00000507596.5:c.558T>C	ENSP00000424291.1:p.Gly186=
ENST00000510434.1:c.558T>C	ENSP00000423051.1:p.Gly186=
NM_002617.3:c.558T>C	NP_002608.1:p.Gly186=
NM_153818.1:c.558T>C	NP_722540.1:p.Gly186=
XM_011541573.1:c.558T>C	XP_011539875.1:p.Gly186=
XM_011541574.1:c.126T>C	XP_011539876.1:p.Gly42=
XM_011541575.1:c.126T>C	XP_011539877.1:p.Gly42=
XM_011541576.1:c.558T>C	XP_011539878.1:p.Gly186=
XR_946666.1:n.678T>C
XM_011541576.2:c.558T>C	XP_011539878.1:p.Gly186=
XR_946666.2:n.627T>C
NM_001374425.1:c.558T>C	NP_001361354.1:p.Gly186=
NM_001374426.1:c.126T>C	NP_001361355.1:p.Gly42=
NM_001374427.1:c.126T>C	NP_001361356.1:p.Gly42=
NM_002617.4:c.558T>C MANE Select	NP_002608.1:p.Gly186=
NM_153818.2:c.558T>C	NP_722540.1:p.Gly186=
NR_164636.1:n.677T>C