Canonical Allele Identifier: CA337987554
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 3211483
ClinVar RCV Id: RCV004505871
dbSNP Id: rs748545159
gnomAD v2: 1-2340020-C-A
gnomAD v3: 1-2408581-C-A
gnomAD v4: 1-2408581-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408581C>A , CM000663.2:g.2408581C>A GRCh38
NC_000001.10:g.2340020C>A , CM000663.1:g.2340020C>A GRCh37
NC_000001.9:g.2329880C>A NCBI36
NG_008342.1:g.8991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.471G>T ENSP00000288774.3:p.Arg157Ser
ENST00000447513.7:c.471G>T MANE Select ENSP00000407922.2:p.Arg157Ser
ENST00000650293.1:c.425G>T
ENST00000288774.7:c.471G>T ENSP00000288774.3:p.Arg157Ser
ENST00000447513.6:c.471G>T ENSP00000407922.2:p.Arg157Ser
ENST00000507596.5:c.471G>T ENSP00000424291.1:p.Arg157Ser
ENST00000508384.5:c.39G>T ENSP00000464289.1:p.Arg13Ser
ENST00000510434.1:c.471G>T ENSP00000423051.1:p.Arg157Ser
NM_002617.3:c.471G>T NP_002608.1:p.Arg157Ser
NM_153818.1:c.471G>T NP_722540.1:p.Arg157Ser
XM_011541573.1:c.471G>T XP_011539875.1:p.Arg157Ser
XM_011541574.1:c.39G>T XP_011539876.1:p.Arg13Ser
XM_011541575.1:c.39G>T XP_011539877.1:p.Arg13Ser
XM_011541576.1:c.471G>T XP_011539878.1:p.Arg157Ser
XR_946666.1:n.591G>T
XM_011541576.2:c.471G>T XP_011539878.1:p.Arg157Ser
XR_946666.2:n.540G>T
NM_001374425.1:c.471G>T NP_001361354.1:p.Arg157Ser
NM_001374426.1:c.39G>T NP_001361355.1:p.Arg13Ser
NM_001374427.1:c.39G>T NP_001361356.1:p.Arg13Ser
NM_002617.4:c.471G>T MANE Select NP_002608.1:p.Arg157Ser
NM_153818.2:c.471G>T NP_722540.1:p.Arg157Ser
NR_164636.1:n.590G>T