Canonical Allele Identifier: CA337984285

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337971G>C (hg19) ; chr1:g.2406532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406532G>C , CM000663.2:g.2406532G>C	GRCh38
NC_000001.10:g.2337971G>C , CM000663.1:g.2337971G>C	GRCh37
NC_000001.9:g.2327831G>C	NCBI36
NG_008342.1:g.11040C>G
NG_016128.1:g.19758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.924C>G	ENSP00000288774.3:p.Cys308Trp
ENST00000447513.7:c.864C>G MANE Select	ENSP00000407922.2:p.Cys288Trp
ENST00000650293.1:c.818C>G
ENST00000288774.7:c.924C>G	ENSP00000288774.3:p.Cys308Trp
ENST00000447513.6:c.864C>G	ENSP00000407922.2:p.Cys288Trp
ENST00000507596.5:c.864C>G	ENSP00000424291.1:p.Cys288Trp
ENST00000510434.1:c.*230C>G	ENSP00000423051.1:n.*230C>G
NM_002617.3:c.864C>G	NP_002608.1:p.Cys288Trp
NM_153818.1:c.924C>G	NP_722540.1:p.Cys308Trp
XM_011541573.1:c.921C>G	XP_011539875.1:p.Cys307Trp
XM_011541574.1:c.489C>G	XP_011539876.1:p.Cys163Trp
XM_011541575.1:c.489C>G	XP_011539877.1:p.Cys163Trp
XR_946666.1:n.980C>G
XR_946666.2:n.929C>G
NM_001374425.1:c.921C>G	NP_001361354.1:p.Cys307Trp
NM_001374426.1:c.489C>G	NP_001361355.1:p.Cys163Trp
NM_001374427.1:c.432C>G	NP_001361356.1:p.Cys144Trp
NM_002617.4:c.864C>G MANE Select	NP_002608.1:p.Cys288Trp
NM_153818.2:c.924C>G	NP_722540.1:p.Cys308Trp
NR_164636.1:n.979C>G