Canonical Allele Identifier: CA337984136

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337946T>A (hg19) ; chr1:g.2406507T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.949A>T	ENSP00000288774.3:p.Ile317Phe
ENST00000447513.7:c.889A>T MANE Select	ENSP00000407922.2:p.Ile297Phe
ENST00000650293.1:c.843A>T
ENST00000288774.7:c.949A>T	ENSP00000288774.3:p.Ile317Phe
ENST00000447513.6:c.889A>T	ENSP00000407922.2:p.Ile297Phe
ENST00000507596.5:c.889A>T	ENSP00000424291.1:p.Ile297Phe
NM_002617.3:c.889A>T	NP_002608.1:p.Ile297Phe
NM_153818.1:c.949A>T	NP_722540.1:p.Ile317Phe
XM_011541573.1:c.946A>T	XP_011539875.1:p.Ile316Phe
XM_011541574.1:c.514A>T	XP_011539876.1:p.Ile172Phe
XM_011541575.1:c.514A>T	XP_011539877.1:p.Ile172Phe
XR_946666.1:n.1005A>T
XR_946666.2:n.954A>T
NM_001374425.1:c.946A>T	NP_001361354.1:p.Ile316Phe
NM_001374426.1:c.514A>T	NP_001361355.1:p.Ile172Phe
NM_001374427.1:c.457A>T	NP_001361356.1:p.Ile153Phe
NM_002617.4:c.889A>T MANE Select	NP_002608.1:p.Ile297Phe
NM_153818.2:c.949A>T	NP_722540.1:p.Ile317Phe
NR_164636.1:n.1004A>T