Canonical Allele Identifier: CA337984157

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337952C>A (hg19) ; chr1:g.2406513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406513C>A , CM000663.2:g.2406513C>A	GRCh38
NC_000001.10:g.2337952C>A , CM000663.1:g.2337952C>A	GRCh37
NC_000001.9:g.2327812C>A	NCBI36
NG_008342.1:g.11059G>T
NG_016128.1:g.19739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.943G>T	ENSP00000288774.3:p.Glu315Ter
ENST00000447513.7:c.883G>T MANE Select	ENSP00000407922.2:p.Glu295Ter
ENST00000650293.1:c.837G>T
ENST00000288774.7:c.943G>T	ENSP00000288774.3:p.Glu315Ter
ENST00000447513.6:c.883G>T	ENSP00000407922.2:p.Glu295Ter
ENST00000507596.5:c.883G>T	ENSP00000424291.1:p.Glu295Ter
NM_002617.3:c.883G>T	NP_002608.1:p.Glu295Ter
NM_153818.1:c.943G>T	NP_722540.1:p.Glu315Ter
XM_011541573.1:c.940G>T	XP_011539875.1:p.Glu314Ter
XM_011541574.1:c.508G>T	XP_011539876.1:p.Glu170Ter
XM_011541575.1:c.508G>T	XP_011539877.1:p.Glu170Ter
XR_946666.1:n.999G>T
XR_946666.2:n.948G>T
NM_001374425.1:c.940G>T	NP_001361354.1:p.Glu314Ter
NM_001374426.1:c.508G>T	NP_001361355.1:p.Glu170Ter
NM_001374427.1:c.451G>T	NP_001361356.1:p.Glu151Ter
NM_002617.4:c.883G>T MANE Select	NP_002608.1:p.Glu295Ter
NM_153818.2:c.943G>T	NP_722540.1:p.Glu315Ter
NR_164636.1:n.998G>T