Canonical Allele Identifier: CA10610738

Gene: PEX10

Linked Data

• ClinVar Variation Id: 296278
• ClinVar RCV Id: RCV000367525 ; RCV003535686
• dbSNP Id: rs369211467
• gnomAD v2: 1-2338409-C-T
• gnomAD v3: 1-2406970-C-T
• gnomAD v4: 1-2406970-C-T
• MyVariant Identifiers: chr1:g.2338409C>T (hg19) ; chr1:g.2406970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406970C>T , CM000663.2:g.2406970C>T	GRCh38
NC_000001.10:g.2338409C>T , CM000663.1:g.2338409C>T	GRCh37
NC_000001.9:g.2328269C>T	NCBI36
NG_008342.1:g.10602G>A
NG_016128.1:g.20196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.601-15G>A	ENSP00000288774.3:n.601-15G>A
ENST00000447513.7:c.601-75G>A MANE Select	ENSP00000407922.2:n.601-75G>A
ENST00000650293.1:c.555-75G>A
ENST00000288774.7:c.601-15G>A	ENSP00000288774.3:n.601-15G>A
ENST00000447513.6:c.601-75G>A	ENSP00000407922.2:n.601-75G>A
ENST00000507596.5:c.601-75G>A	ENSP00000424291.1:n.601-75G>A
ENST00000510434.1:c.597-75G>A	ENSP00000423051.1:n.597-75G>A
NM_002617.3:c.601-75G>A	NP_002608.1:n.601-75G>A
NM_153818.1:c.601-15G>A	NP_722540.1:n.601-15G>A
XM_011541573.1:c.601-18G>A	XP_011539875.1:n.601-18G>A
XM_011541574.1:c.169-18G>A	XP_011539876.1:n.169-18G>A
XM_011541575.1:c.169-18G>A	XP_011539877.1:n.169-18G>A
XM_011541576.1:c.597-18G>A	XP_011539878.1:n.597-18G>A
XR_946666.1:n.717-75G>A
XM_011541576.2:c.597-18G>A	XP_011539878.1:n.597-18G>A
XR_946666.2:n.666-75G>A
NM_001374425.1:c.601-18G>A	NP_001361354.1:n.601-18G>A
NM_001374426.1:c.169-18G>A	NP_001361355.1:n.169-18G>A
NM_001374427.1:c.169-75G>A	NP_001361356.1:n.169-75G>A
NM_002617.4:c.601-75G>A MANE Select	NP_002608.1:n.601-75G>A
NM_153818.2:c.601-15G>A	NP_722540.1:n.601-15G>A
NR_164636.1:n.716-75G>A