Canonical Allele Identifier: CA337989126

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2101412
• ClinVar RCV Id: RCV003016894
• dbSNP Id: rs1643096551
• MyVariant Identifiers: chr1:g.2340289T>A (hg19) ; chr1:g.2408850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408850T>A , CM000663.2:g.2408850T>A	GRCh38
NC_000001.10:g.2340289T>A , CM000663.1:g.2340289T>A	GRCh37
NC_000001.9:g.2330149T>A	NCBI36
NG_008342.1:g.8722A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.202A>T	ENSP00000288774.3:p.Thr68Ser
ENST00000447513.7:c.202A>T MANE Select	ENSP00000407922.2:p.Thr68Ser
ENST00000650293.1:c.156A>T
ENST00000288774.7:c.202A>T	ENSP00000288774.3:p.Thr68Ser
ENST00000447513.6:c.202A>T	ENSP00000407922.2:p.Thr68Ser
ENST00000502666.1:c.407A>T	ENSP00000461951.1:n.407A>T
ENST00000507596.5:c.202A>T	ENSP00000424291.1:p.Thr68Ser
ENST00000508384.5:c.-231A>T	ENSP00000464289.1:n.-231A>T
ENST00000510434.1:c.202A>T	ENSP00000423051.1:p.Thr68Ser
ENST00000514502.1:c.*219A>T	ENSP00000425924.1:n.*219A>T
ENST00000515760.1:n.336A>T
NM_002617.3:c.202A>T	NP_002608.1:p.Thr68Ser
NM_153818.1:c.202A>T	NP_722540.1:p.Thr68Ser
XM_011541573.1:c.202A>T	XP_011539875.1:p.Thr68Ser
XM_011541574.1:c.-231A>T	XP_011539876.1:n.-231A>T
XM_011541575.1:c.-231A>T	XP_011539877.1:n.-231A>T
XM_011541576.1:c.202A>T	XP_011539878.1:p.Thr68Ser
XR_946666.1:n.322A>T
XM_011541576.2:c.202A>T	XP_011539878.1:p.Thr68Ser
XR_946666.2:n.271A>T
NM_001374425.1:c.202A>T	NP_001361354.1:p.Thr68Ser
NM_001374426.1:c.-231A>T	NP_001361355.1:n.-231A>T
NM_001374427.1:c.-231A>T	NP_001361356.1:n.-231A>T
NM_002617.4:c.202A>T MANE Select	NP_002608.1:p.Thr68Ser
NM_153818.2:c.202A>T	NP_722540.1:p.Thr68Ser
NR_164636.1:n.321A>T