Canonical Allele Identifier: CA16943529

Gene: PEX10

Linked Data

• dbSNP Id: rs934018871
• gnomAD v2: 1-2339681-G-A
• gnomAD v3: 1-2408242-G-A
• gnomAD v4: 1-2408242-G-A
• MyVariant Identifiers: chr1:g.2339681G>A (hg19) ; chr1:g.2408242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408242G>A , CM000663.2:g.2408242G>A	GRCh38
NC_000001.10:g.2339681G>A , CM000663.1:g.2339681G>A	GRCh37
NC_000001.9:g.2329541G>A	NCBI36
NG_008342.1:g.9330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+210C>T	ENSP00000288774.3:n.600+210C>T
ENST00000447513.7:c.600+210C>T MANE Select	ENSP00000407922.2:n.600+210C>T
ENST00000650293.1:c.554+210C>T
ENST00000288774.7:c.600+210C>T	ENSP00000288774.3:n.600+210C>T
ENST00000447513.6:c.600+210C>T	ENSP00000407922.2:n.600+210C>T
ENST00000507596.5:c.600+210C>T	ENSP00000424291.1:n.600+210C>T
ENST00000510434.1:c.596+214C>T	ENSP00000423051.1:n.596+214C>T
NM_002617.3:c.600+210C>T	NP_002608.1:n.600+210C>T
NM_153818.1:c.600+210C>T	NP_722540.1:n.600+210C>T
XM_011541573.1:c.600+210C>T	XP_011539875.1:n.600+210C>T
XM_011541574.1:c.168+210C>T	XP_011539876.1:n.168+210C>T
XM_011541575.1:c.168+210C>T	XP_011539877.1:n.168+210C>T
XM_011541576.1:c.596+214C>T	XP_011539878.1:n.596+214C>T
XR_946666.1:n.716+214C>T
XM_011541576.2:c.596+214C>T	XP_011539878.1:n.596+214C>T
XR_946666.2:n.665+214C>T
NM_001374425.1:c.600+210C>T	NP_001361354.1:n.600+210C>T
NM_001374426.1:c.168+210C>T	NP_001361355.1:n.168+210C>T
NM_001374427.1:c.168+210C>T	NP_001361356.1:n.168+210C>T
NM_002617.4:c.600+210C>T MANE Select	NP_002608.1:n.600+210C>T
NM_153818.2:c.600+210C>T	NP_722540.1:n.600+210C>T
NR_164636.1:n.715+214C>T