Canonical Allele Identifier: CA538213
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 296281
dbSNP Id: rs140340426
gnomAD v2: 1-2340175-G-A
gnomAD v3: 1-2408736-G-A
gnomAD v4: 1-2408736-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408736G>A , CM000663.2:g.2408736G>A GRCh38
NC_000001.10:g.2340175G>A , CM000663.1:g.2340175G>A GRCh37
NC_000001.9:g.2330035G>A NCBI36
NG_008342.1:g.8836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.316C>T ENSP00000288774.3:p.Leu106=
ENST00000447513.7:c.316C>T MANE Select ENSP00000407922.2:p.Leu106=
ENST00000650293.1:c.270C>T
ENST00000288774.7:c.316C>T ENSP00000288774.3:p.Leu106=
ENST00000447513.6:c.316C>T ENSP00000407922.2:p.Leu106=
ENST00000502666.1:c.521C>T ENSP00000461951.1:n.521C>T
ENST00000507596.5:c.316C>T ENSP00000424291.1:p.Leu106=
ENST00000508384.5:c.-117C>T ENSP00000464289.1:n.-117C>T
ENST00000510434.1:c.316C>T ENSP00000423051.1:p.Leu106=
ENST00000515760.1:n.450C>T
NM_002617.3:c.316C>T NP_002608.1:p.Leu106=
NM_153818.1:c.316C>T NP_722540.1:p.Leu106=
XM_011541573.1:c.316C>T XP_011539875.1:p.Leu106=
XM_011541574.1:c.-117C>T XP_011539876.1:n.-117C>T
XM_011541575.1:c.-117C>T XP_011539877.1:n.-117C>T
XM_011541576.1:c.316C>T XP_011539878.1:p.Leu106=
XR_946666.1:n.436C>T
XM_011541576.2:c.316C>T XP_011539878.1:p.Leu106=
XR_946666.2:n.385C>T
NM_001374425.1:c.316C>T NP_001361354.1:p.Leu106=
NM_001374426.1:c.-117C>T NP_001361355.1:n.-117C>T
NM_001374427.1:c.-117C>T NP_001361356.1:n.-117C>T
NM_002617.4:c.316C>T MANE Select NP_002608.1:p.Leu106=
NM_153818.2:c.316C>T NP_722540.1:p.Leu106=
NR_164636.1:n.435C>T