Canonical Allele Identifier: CA337983985

Gene: PEX10

Linked Data

• ClinVar Variation Id: 554342
• ClinVar RCV Id: RCV000669958 ; RCV001784260 ; RCV003472121 ; RCV003653256
• dbSNP Id: rs1553231739
• gnomAD v4: 1-2406483-C-G
• MyVariant Identifiers: chr1:g.2337922C>G (hg19) ; chr1:g.2406483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406483C>G , CM000663.2:g.2406483C>G	GRCh38
NC_000001.10:g.2337922C>G , CM000663.1:g.2337922C>G	GRCh37
NC_000001.9:g.2327782C>G	NCBI36
NG_008342.1:g.11089G>C
NG_016128.1:g.19709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.972+1G>C	ENSP00000288774.3:n.972+1G>C
ENST00000447513.7:c.912+1G>C MANE Select	ENSP00000407922.2:n.912+1G>C
ENST00000650293.1:c.866+1G>C
ENST00000288774.7:c.972+1G>C	ENSP00000288774.3:n.972+1G>C
ENST00000447513.6:c.912+1G>C	ENSP00000407922.2:n.912+1G>C
ENST00000507596.5:c.912+1G>C	ENSP00000424291.1:n.912+1G>C
NM_002617.3:c.912+1G>C	NP_002608.1:n.912+1G>C
NM_153818.1:c.972+1G>C	NP_722540.1:n.972+1G>C
XM_011541573.1:c.969+1G>C	XP_011539875.1:n.969+1G>C
XM_011541574.1:c.537+1G>C	XP_011539876.1:n.537+1G>C
XM_011541575.1:c.537+1G>C	XP_011539877.1:n.537+1G>C
XR_946666.1:n.1028+1G>C
XR_946666.2:n.977+1G>C
NM_001374425.1:c.969+1G>C	NP_001361354.1:n.969+1G>C
NM_001374426.1:c.537+1G>C	NP_001361355.1:n.537+1G>C
NM_001374427.1:c.480+1G>C	NP_001361356.1:n.480+1G>C
NM_002617.4:c.912+1G>C MANE Select	NP_002608.1:n.912+1G>C
NM_153818.2:c.972+1G>C	NP_722540.1:n.972+1G>C
NR_164636.1:n.1027+1G>C