Canonical Allele Identifier: CA415775986

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1582801
• ClinVar RCV Id: RCV002091218
• dbSNP Id: rs377135853
• gnomAD v4: 1-2408805-G-T
• MyVariant Identifiers: chr1:g.2340244G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408805G>T , CM000663.2:g.2408805G>T	GRCh38
NC_000001.10:g.2340244G>T , CM000663.1:g.2340244G>T	GRCh37
NC_000001.9:g.2330104G>T	NCBI36
NG_008342.1:g.8767C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.247C>A	ENSP00000288774.3:p.Arg83=
ENST00000447513.7:c.247C>A MANE Select	ENSP00000407922.2:p.Arg83=
ENST00000650293.1:c.201C>A
ENST00000288774.7:c.247C>A	ENSP00000288774.3:p.Arg83=
ENST00000447513.6:c.247C>A	ENSP00000407922.2:p.Arg83=
ENST00000502666.1:c.452C>A	ENSP00000461951.1:n.452C>A
ENST00000507596.5:c.247C>A	ENSP00000424291.1:p.Arg83=
ENST00000508384.5:c.-186C>A	ENSP00000464289.1:n.-186C>A
ENST00000510434.1:c.247C>A	ENSP00000423051.1:p.Arg83=
ENST00000514502.1:c.*264C>A	ENSP00000425924.1:n.*264C>A
ENST00000515760.1:n.381C>A
NM_002617.3:c.247C>A	NP_002608.1:p.Arg83=
NM_153818.1:c.247C>A	NP_722540.1:p.Arg83=
XM_011541573.1:c.247C>A	XP_011539875.1:p.Arg83=
XM_011541574.1:c.-186C>A	XP_011539876.1:n.-186C>A
XM_011541575.1:c.-186C>A	XP_011539877.1:n.-186C>A
XM_011541576.1:c.247C>A	XP_011539878.1:p.Arg83=
XR_946666.1:n.367C>A
XM_011541576.2:c.247C>A	XP_011539878.1:p.Arg83=
XR_946666.2:n.316C>A
NM_001374425.1:c.247C>A	NP_001361354.1:p.Arg83=
NM_001374426.1:c.-186C>A	NP_001361355.1:n.-186C>A
NM_001374427.1:c.-186C>A	NP_001361356.1:n.-186C>A
NM_002617.4:c.247C>A MANE Select	NP_002608.1:p.Arg83=
NM_153818.2:c.247C>A	NP_722540.1:p.Arg83=
NR_164636.1:n.366C>A