Canonical Allele Identifier: CA538137
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 296279
dbSNP Id: rs75377471
gnomAD v2: 1-2339936-G-A
gnomAD v3: 1-2408497-G-A
gnomAD v4: 1-2408497-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408497G>A , CM000663.2:g.2408497G>A GRCh38
NC_000001.10:g.2339936G>A , CM000663.1:g.2339936G>A GRCh37
NC_000001.9:g.2329796G>A NCBI36
NG_008342.1:g.9075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.555C>T ENSP00000288774.3:p.His185=
ENST00000447513.7:c.555C>T MANE Select ENSP00000407922.2:p.His185=
ENST00000650293.1:c.509C>T
ENST00000288774.7:c.555C>T ENSP00000288774.3:p.His185=
ENST00000447513.6:c.555C>T ENSP00000407922.2:p.His185=
ENST00000507596.5:c.555C>T ENSP00000424291.1:p.His185=
ENST00000510434.1:c.555C>T ENSP00000423051.1:p.His185=
NM_002617.3:c.555C>T NP_002608.1:p.His185=
NM_153818.1:c.555C>T NP_722540.1:p.His185=
XM_011541573.1:c.555C>T XP_011539875.1:p.His185=
XM_011541574.1:c.123C>T XP_011539876.1:p.His41=
XM_011541575.1:c.123C>T XP_011539877.1:p.His41=
XM_011541576.1:c.555C>T XP_011539878.1:p.His185=
XR_946666.1:n.675C>T
XM_011541576.2:c.555C>T XP_011539878.1:p.His185=
XR_946666.2:n.624C>T
NM_001374425.1:c.555C>T NP_001361354.1:p.His185=
NM_001374426.1:c.123C>T NP_001361355.1:p.His41=
NM_001374427.1:c.123C>T NP_001361356.1:p.His41=
NM_002617.4:c.555C>T MANE Select NP_002608.1:p.His185=
NM_153818.2:c.555C>T NP_722540.1:p.His185=
NR_164636.1:n.674C>T