Canonical Allele Identifier: CA538063
Gene: PEX10 HGNC NCBI

Linked Data

ClinVar Variation Id: 296276
dbSNP Id: rs761005209
gnomAD v2: 1-2338224-G-A
gnomAD v3: 1-2406785-G-A
gnomAD v4: 1-2406785-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406785G>A , CM000663.2:g.2406785G>A GRCh38
NC_000001.10:g.2338224G>A , CM000663.1:g.2338224G>A GRCh37
NC_000001.9:g.2328084G>A NCBI36
NG_008342.1:g.10787C>T
NG_016128.1:g.20011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.771C>T ENSP00000288774.3:p.Tyr257=
ENST00000447513.7:c.711C>T MANE Select ENSP00000407922.2:p.Tyr237=
ENST00000650293.1:c.665C>T
ENST00000288774.7:c.771C>T ENSP00000288774.3:p.Tyr257=
ENST00000447513.6:c.711C>T ENSP00000407922.2:p.Tyr237=
ENST00000507596.5:c.711C>T ENSP00000424291.1:p.Tyr237=
ENST00000510434.1:c.*77C>T ENSP00000423051.1:n.*77C>T
NM_002617.3:c.711C>T NP_002608.1:p.Tyr237=
NM_153818.1:c.771C>T NP_722540.1:p.Tyr257=
XM_011541573.1:c.768C>T XP_011539875.1:p.Tyr256=
XM_011541574.1:c.336C>T XP_011539876.1:p.Tyr112=
XM_011541575.1:c.336C>T XP_011539877.1:p.Tyr112=
XR_946666.1:n.827C>T
XR_946666.2:n.776C>T
NM_001374425.1:c.768C>T NP_001361354.1:p.Tyr256=
NM_001374426.1:c.336C>T NP_001361355.1:p.Tyr112=
NM_001374427.1:c.279C>T NP_001361356.1:p.Tyr93=
NM_002617.4:c.711C>T MANE Select NP_002608.1:p.Tyr237=
NM_153818.2:c.771C>T NP_722540.1:p.Tyr257=
NR_164636.1:n.826C>T