Canonical Allele Identifier: CA245491

Gene: PEX10

Linked Data

• ClinVar Variation Id: 197385
• ClinVar RCV Id: RCV000178398 ; RCV000763844 ; RCV001034401 ; RCV001097563 ; RCV001272159 ; RCV003977464
• dbSNP Id: rs61736380
• ExAC: 1:2338223 C / G
• gnomAD v2: 1-2338223-C-G
• gnomAD v3: 1-2406784-C-G
• gnomAD v4: 1-2406784-C-G
• MyVariant Identifiers: chr1:g.2338223C>G (hg19) ; chr1:g.2406784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406784C>G , CM000663.2:g.2406784C>G	GRCh38
NC_000001.10:g.2338223C>G , CM000663.1:g.2338223C>G	GRCh37
NC_000001.9:g.2328083C>G	NCBI36
NG_008342.1:g.10788G>C
NG_016128.1:g.20010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.772G>C	ENSP00000288774.3:p.Gly258Arg
ENST00000447513.7:c.712G>C MANE Select	ENSP00000407922.2:p.Gly238Arg
ENST00000650293.1:c.666G>C
ENST00000288774.7:c.772G>C	ENSP00000288774.3:p.Gly258Arg
ENST00000447513.6:c.712G>C	ENSP00000407922.2:p.Gly238Arg
ENST00000507596.5:c.712G>C	ENSP00000424291.1:p.Gly238Arg
ENST00000510434.1:c.*78G>C	ENSP00000423051.1:n.*78G>C
NM_002617.3:c.712G>C	NP_002608.1:p.Gly238Arg
NM_153818.1:c.772G>C	NP_722540.1:p.Gly258Arg
XM_011541573.1:c.769G>C	XP_011539875.1:p.Gly257Arg
XM_011541574.1:c.337G>C	XP_011539876.1:p.Gly113Arg
XM_011541575.1:c.337G>C	XP_011539877.1:p.Gly113Arg
XR_946666.1:n.828G>C
XR_946666.2:n.777G>C
NM_001374425.1:c.769G>C	NP_001361354.1:p.Gly257Arg
NM_001374426.1:c.337G>C	NP_001361355.1:p.Gly113Arg
NM_001374427.1:c.280G>C	NP_001361356.1:p.Gly94Arg
NM_002617.4:c.712G>C MANE Select	NP_002608.1:p.Gly238Arg
NM_153818.2:c.772G>C	NP_722540.1:p.Gly258Arg
NR_164636.1:n.827G>C