Canonical Allele Identifier: CA2739272227

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2850658
• ClinVar RCV Id: RCV003652644

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408864A>G , CM000663.2:g.2408864A>G	GRCh38
NC_000001.10:g.2340303A>G , CM000663.1:g.2340303A>G	GRCh37
NC_000001.9:g.2330163A>G	NCBI36
NG_008342.1:g.8708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.194-6T>C	ENSP00000288774.3:n.194-6T>C
ENST00000447513.7:c.194-6T>C MANE Select	ENSP00000407922.2:n.194-6T>C
ENST00000650293.1:c.148-6T>C
ENST00000288774.7:c.194-6T>C	ENSP00000288774.3:n.194-6T>C
ENST00000447513.6:c.194-6T>C	ENSP00000407922.2:n.194-6T>C
ENST00000502666.1:c.399-6T>C	ENSP00000461951.1:n.399-6T>C
ENST00000507596.5:c.194-6T>C	ENSP00000424291.1:n.194-6T>C
ENST00000508384.5:c.-239-6T>C	ENSP00000464289.1:n.-239-6T>C
ENST00000510434.1:c.194-6T>C	ENSP00000423051.1:n.194-6T>C
ENST00000514502.1:c.*211-6T>C	ENSP00000425924.1:n.*211-6T>C
ENST00000515760.1:n.328-6T>C
NM_002617.3:c.194-6T>C	NP_002608.1:n.194-6T>C
NM_153818.1:c.194-6T>C	NP_722540.1:n.194-6T>C
XM_011541573.1:c.194-6T>C	XP_011539875.1:n.194-6T>C
XM_011541574.1:c.-239-6T>C	XP_011539876.1:n.-239-6T>C
XM_011541575.1:c.-239-6T>C	XP_011539877.1:n.-239-6T>C
XM_011541576.1:c.194-6T>C	XP_011539878.1:n.194-6T>C
XR_946666.1:n.314-6T>C
XM_011541576.2:c.194-6T>C	XP_011539878.1:n.194-6T>C
XR_946666.2:n.263-6T>C
NM_001374425.1:c.194-6T>C	NP_001361354.1:n.194-6T>C
NM_001374426.1:c.-239-6T>C	NP_001361355.1:n.-239-6T>C
NM_001374427.1:c.-239-6T>C	NP_001361356.1:n.-239-6T>C
NM_002617.4:c.194-6T>C MANE Select	NP_002608.1:n.194-6T>C
NM_153818.2:c.194-6T>C	NP_722540.1:n.194-6T>C
NR_164636.1:n.313-6T>C