Canonical Allele Identifier: CA10609901

Gene: PEX10

Linked Data

• ClinVar Variation Id: 296268
• ClinVar RCV Id: RCV000331913 ; RCV001689976
• dbSNP Id: rs1129171
• gnomAD v2: 1-2337032-C-T
• gnomAD v3: 1-2405593-C-T
• gnomAD v4: 1-2405593-C-T
• MyVariant Identifiers: chr1:g.2337032C>T (hg19) ; chr1:g.2405593C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2405593C>T , CM000663.2:g.2405593C>T	GRCh38
NC_000001.10:g.2337032C>T , CM000663.1:g.2337032C>T	GRCh37
NC_000001.9:g.2326892C>T	NCBI36
NG_008342.1:g.11979G>A
NG_016128.1:g.18819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.*173G>A	ENSP00000288774.3:n.*173G>A
ENST00000447513.7:c.*173G>A MANE Select	ENSP00000407922.2:n.*173G>A
ENST00000650293.1:c.1108G>A
ENST00000288774.7:c.*173G>A	ENSP00000288774.3:n.*173G>A
ENST00000447513.6:c.*173G>A	ENSP00000407922.2:n.*173G>A
ENST00000507596.5:c.*173G>A	ENSP00000424291.1:n.*173G>A
NM_002617.3:c.*173G>A	NP_002608.1:n.*173G>A
NM_153818.1:c.*173G>A	NP_722540.1:n.*173G>A
XM_011541573.1:c.*173G>A	XP_011539875.1:n.*173G>A
XM_011541574.1:c.*173G>A	XP_011539876.1:n.*173G>A
XM_011541575.1:c.*173G>A	XP_011539877.1:n.*173G>A
XR_946666.1:n.1270G>A
XR_946666.2:n.1219G>A
NM_001374425.1:c.*173G>A	NP_001361354.1:n.*173G>A
NM_001374426.1:c.*173G>A	NP_001361355.1:n.*173G>A
NM_001374427.1:c.*173G>A	NP_001361356.1:n.*173G>A
NM_002617.4:c.*173G>A MANE Select	NP_002608.1:n.*173G>A
NM_153818.2:c.*173G>A	NP_722540.1:n.*173G>A
NR_164636.1:n.1269G>A