Canonical Allele Identifier: CA337984291

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337972C>G (hg19) ; chr1:g.2406533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406533C>G , CM000663.2:g.2406533C>G	GRCh38
NC_000001.10:g.2337972C>G , CM000663.1:g.2337972C>G	GRCh37
NC_000001.9:g.2327832C>G	NCBI36
NG_008342.1:g.11039G>C
NG_016128.1:g.19759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.923G>C	ENSP00000288774.3:p.Cys308Ser
ENST00000447513.7:c.863G>C MANE Select	ENSP00000407922.2:p.Cys288Ser
ENST00000650293.1:c.817G>C
ENST00000288774.7:c.923G>C	ENSP00000288774.3:p.Cys308Ser
ENST00000447513.6:c.863G>C	ENSP00000407922.2:p.Cys288Ser
ENST00000507596.5:c.863G>C	ENSP00000424291.1:p.Cys288Ser
ENST00000510434.1:c.*229G>C	ENSP00000423051.1:n.*229G>C
NM_002617.3:c.863G>C	NP_002608.1:p.Cys288Ser
NM_153818.1:c.923G>C	NP_722540.1:p.Cys308Ser
XM_011541573.1:c.920G>C	XP_011539875.1:p.Cys307Ser
XM_011541574.1:c.488G>C	XP_011539876.1:p.Cys163Ser
XM_011541575.1:c.488G>C	XP_011539877.1:p.Cys163Ser
XR_946666.1:n.979G>C
XR_946666.2:n.928G>C
NM_001374425.1:c.920G>C	NP_001361354.1:p.Cys307Ser
NM_001374426.1:c.488G>C	NP_001361355.1:p.Cys163Ser
NM_001374427.1:c.431G>C	NP_001361356.1:p.Cys144Ser
NM_002617.4:c.863G>C MANE Select	NP_002608.1:p.Cys288Ser
NM_153818.2:c.923G>C	NP_722540.1:p.Cys308Ser
NR_164636.1:n.978G>C