Canonical Allele Identifier: CA337984849

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2338058C>A (hg19) ; chr1:g.2406619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406619C>A , CM000663.2:g.2406619C>A	GRCh38
NC_000001.10:g.2338058C>A , CM000663.1:g.2338058C>A	GRCh37
NC_000001.9:g.2327918C>A	NCBI36
NG_008342.1:g.10953G>T
NG_016128.1:g.19845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.837G>T	ENSP00000288774.3:p.Arg279Ser
ENST00000447513.7:c.777G>T MANE Select	ENSP00000407922.2:p.Arg259Ser
ENST00000650293.1:c.731G>T
ENST00000288774.7:c.837G>T	ENSP00000288774.3:p.Arg279Ser
ENST00000447513.6:c.777G>T	ENSP00000407922.2:p.Arg259Ser
ENST00000507596.5:c.777G>T	ENSP00000424291.1:p.Arg259Ser
ENST00000510434.1:c.*143G>T	ENSP00000423051.1:n.*143G>T
NM_002617.3:c.777G>T	NP_002608.1:p.Arg259Ser
NM_153818.1:c.837G>T	NP_722540.1:p.Arg279Ser
XM_011541573.1:c.834G>T	XP_011539875.1:p.Arg278Ser
XM_011541574.1:c.402G>T	XP_011539876.1:p.Arg134Ser
XM_011541575.1:c.402G>T	XP_011539877.1:p.Arg134Ser
XR_946666.1:n.893G>T
XR_946666.2:n.842G>T
NM_001374425.1:c.834G>T	NP_001361354.1:p.Arg278Ser
NM_001374426.1:c.402G>T	NP_001361355.1:p.Arg134Ser
NM_001374427.1:c.345G>T	NP_001361356.1:p.Arg115Ser
NM_002617.4:c.777G>T MANE Select	NP_002608.1:p.Arg259Ser
NM_153818.2:c.837G>T	NP_722540.1:p.Arg279Ser
NR_164636.1:n.892G>T