Canonical Allele Identifier: CA175039

Gene: PEX10

Linked Data

• ClinVar Variation Id: 162433
• ClinVar RCV Id: RCV000149811 ; RCV000675089 ; RCV000728635
• dbSNP Id: rs724160001
• ExAC: 1:2337254 C / T
• gnomAD v2: 1-2337254-C-T
• gnomAD v3: 1-2405815-C-T
• gnomAD v4: 1-2405815-C-T
• MyVariant Identifiers: chr1:g.2337254C>T (hg19) ; chr1:g.2405815C>T (hg38)
• PubMed: PMID:20695019

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2405815C>T , CM000663.2:g.2405815C>T	GRCh38
NC_000001.10:g.2337254C>T , CM000663.1:g.2337254C>T	GRCh37
NC_000001.9:g.2327114C>T	NCBI36
NG_008342.1:g.11757G>A
NG_016128.1:g.19041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.992G>A	ENSP00000288774.3:p.Arg331Gln
ENST00000447513.7:c.932G>A MANE Select	ENSP00000407922.2:p.Arg311Gln
ENST00000650293.1:c.886G>A
ENST00000288774.7:c.992G>A	ENSP00000288774.3:p.Arg331Gln
ENST00000447513.6:c.932G>A	ENSP00000407922.2:p.Arg311Gln
ENST00000507596.5:c.926G>A	ENSP00000424291.1:p.Arg309Gln
NM_002617.3:c.932G>A	NP_002608.1:p.Arg311Gln
NM_153818.1:c.992G>A	NP_722540.1:p.Arg331Gln
XM_011541573.1:c.989G>A	XP_011539875.1:p.Arg330Gln
XM_011541574.1:c.557G>A	XP_011539876.1:p.Arg186Gln
XM_011541575.1:c.557G>A	XP_011539877.1:p.Arg186Gln
XR_946666.1:n.1048G>A
XR_946666.2:n.997G>A
NM_001374425.1:c.989G>A	NP_001361354.1:p.Arg330Gln
NM_001374426.1:c.557G>A	NP_001361355.1:p.Arg186Gln
NM_001374427.1:c.500G>A	NP_001361356.1:p.Arg167Gln
NM_002617.4:c.932G>A MANE Select	NP_002608.1:p.Arg311Gln
NM_153818.2:c.992G>A	NP_722540.1:p.Arg331Gln
NR_164636.1:n.1047G>A