Canonical Allele Identifier: CA521014074

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1078646
• ClinVar RCV Id: RCV001393671
• dbSNP Id: rs1241597904
• gnomAD v2: 1-2338149-C-T
• MyVariant Identifiers: chr1:g.2338149C>T (hg19) ; chr1:g.2406710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406710C>T , CM000663.2:g.2406710C>T	GRCh38
NC_000001.10:g.2338149C>T , CM000663.1:g.2338149C>T	GRCh37
NC_000001.9:g.2328009C>T	NCBI36
NG_008342.1:g.10862G>A
NG_016128.1:g.19936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.836+10G>A	ENSP00000288774.3:n.836+10G>A
ENST00000447513.7:c.776+10G>A MANE Select	ENSP00000407922.2:n.776+10G>A
ENST00000650293.1:c.730+10G>A
ENST00000288774.7:c.836+10G>A	ENSP00000288774.3:n.836+10G>A
ENST00000447513.6:c.776+10G>A	ENSP00000407922.2:n.776+10G>A
ENST00000507596.5:c.776+10G>A	ENSP00000424291.1:n.776+10G>A
ENST00000510434.1:c.*142+10G>A	ENSP00000423051.1:n.*142+10G>A
NM_002617.3:c.776+10G>A	NP_002608.1:n.776+10G>A
NM_153818.1:c.836+10G>A	NP_722540.1:n.836+10G>A
XM_011541573.1:c.833+10G>A	XP_011539875.1:n.833+10G>A
XM_011541574.1:c.401+10G>A	XP_011539876.1:n.401+10G>A
XM_011541575.1:c.401+10G>A	XP_011539877.1:n.401+10G>A
XR_946666.1:n.892+10G>A
XR_946666.2:n.841+10G>A
NM_001374425.1:c.833+10G>A	NP_001361354.1:n.833+10G>A
NM_001374426.1:c.401+10G>A	NP_001361355.1:n.401+10G>A
NM_001374427.1:c.344+10G>A	NP_001361356.1:n.344+10G>A
NM_002617.4:c.776+10G>A MANE Select	NP_002608.1:n.776+10G>A
NM_153818.2:c.836+10G>A	NP_722540.1:n.836+10G>A
NR_164636.1:n.891+10G>A