Canonical Allele Identifier: CA337984138
Gene: PEX10 HGNC NCBI

Linked Data

gnomAD v4: 1-2406507-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406507T>C , CM000663.2:g.2406507T>C GRCh38
NC_000001.10:g.2337946T>C , CM000663.1:g.2337946T>C GRCh37
NC_000001.9:g.2327806T>C NCBI36
NG_008342.1:g.11065A>G
NG_016128.1:g.19733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.949A>G ENSP00000288774.3:p.Ile317Val
ENST00000447513.7:c.889A>G MANE Select ENSP00000407922.2:p.Ile297Val
ENST00000650293.1:c.843A>G
ENST00000288774.7:c.949A>G ENSP00000288774.3:p.Ile317Val
ENST00000447513.6:c.889A>G ENSP00000407922.2:p.Ile297Val
ENST00000507596.5:c.889A>G ENSP00000424291.1:p.Ile297Val
NM_002617.3:c.889A>G NP_002608.1:p.Ile297Val
NM_153818.1:c.949A>G NP_722540.1:p.Ile317Val
XM_011541573.1:c.946A>G XP_011539875.1:p.Ile316Val
XM_011541574.1:c.514A>G XP_011539876.1:p.Ile172Val
XM_011541575.1:c.514A>G XP_011539877.1:p.Ile172Val
XR_946666.1:n.1005A>G
XR_946666.2:n.954A>G
NM_001374425.1:c.946A>G NP_001361354.1:p.Ile316Val
NM_001374426.1:c.514A>G NP_001361355.1:p.Ile172Val
NM_001374427.1:c.457A>G NP_001361356.1:p.Ile153Val
NM_002617.4:c.889A>G MANE Select NP_002608.1:p.Ile297Val
NM_153818.2:c.949A>G NP_722540.1:p.Ile317Val
NR_164636.1:n.1004A>G