Canonical Allele Identifier: CA415775674
Gene: PEX10 HGNC NCBI

Linked Data

dbSNP Id: rs1380528384
MyVariant Identifiers: chr1:g.2339960T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408521T>C , CM000663.2:g.2408521T>C GRCh38
NC_000001.10:g.2339960T>C , CM000663.1:g.2339960T>C GRCh37
NC_000001.9:g.2329820T>C NCBI36
NG_008342.1:g.9051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.531A>G ENSP00000288774.3:p.Leu177=
ENST00000447513.7:c.531A>G MANE Select ENSP00000407922.2:p.Leu177=
ENST00000650293.1:c.485A>G
ENST00000288774.7:c.531A>G ENSP00000288774.3:p.Leu177=
ENST00000447513.6:c.531A>G ENSP00000407922.2:p.Leu177=
ENST00000507596.5:c.531A>G ENSP00000424291.1:p.Leu177=
ENST00000510434.1:c.531A>G ENSP00000423051.1:p.Leu177=
NM_002617.3:c.531A>G NP_002608.1:p.Leu177=
NM_153818.1:c.531A>G NP_722540.1:p.Leu177=
XM_011541573.1:c.531A>G XP_011539875.1:p.Leu177=
XM_011541574.1:c.99A>G XP_011539876.1:p.Leu33=
XM_011541575.1:c.99A>G XP_011539877.1:p.Leu33=
XM_011541576.1:c.531A>G XP_011539878.1:p.Leu177=
XR_946666.1:n.651A>G
XM_011541576.2:c.531A>G XP_011539878.1:p.Leu177=
XR_946666.2:n.600A>G
NM_001374425.1:c.531A>G NP_001361354.1:p.Leu177=
NM_001374426.1:c.99A>G NP_001361355.1:p.Leu33=
NM_001374427.1:c.99A>G NP_001361356.1:p.Leu33=
NM_002617.4:c.531A>G MANE Select NP_002608.1:p.Leu177=
NM_153818.2:c.531A>G NP_722540.1:p.Leu177=
NR_164636.1:n.650A>G