Canonical Allele Identifier: CA520679597

Gene: PEX10

Linked Data

• dbSNP Id: rs1385966417
• gnomAD v2: 1-2339765-A-T
• gnomAD v3: 1-2408326-A-T
• gnomAD v4: 1-2408326-A-T
• MyVariant Identifiers: chr1:g.2339765A>T (hg19) ; chr1:g.2408326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408326A>T , CM000663.2:g.2408326A>T	GRCh38
NC_000001.10:g.2339765A>T , CM000663.1:g.2339765A>T	GRCh37
NC_000001.9:g.2329625A>T	NCBI36
NG_008342.1:g.9246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+126T>A	ENSP00000288774.3:n.600+126T>A
ENST00000447513.7:c.600+126T>A MANE Select	ENSP00000407922.2:n.600+126T>A
ENST00000650293.1:c.554+126T>A
ENST00000288774.7:c.600+126T>A	ENSP00000288774.3:n.600+126T>A
ENST00000447513.6:c.600+126T>A	ENSP00000407922.2:n.600+126T>A
ENST00000507596.5:c.600+126T>A	ENSP00000424291.1:n.600+126T>A
ENST00000510434.1:c.596+130T>A	ENSP00000423051.1:n.596+130T>A
NM_002617.3:c.600+126T>A	NP_002608.1:n.600+126T>A
NM_153818.1:c.600+126T>A	NP_722540.1:n.600+126T>A
XM_011541573.1:c.600+126T>A	XP_011539875.1:n.600+126T>A
XM_011541574.1:c.168+126T>A	XP_011539876.1:n.168+126T>A
XM_011541575.1:c.168+126T>A	XP_011539877.1:n.168+126T>A
XM_011541576.1:c.596+130T>A	XP_011539878.1:n.596+130T>A
XR_946666.1:n.716+130T>A
XM_011541576.2:c.596+130T>A	XP_011539878.1:n.596+130T>A
XR_946666.2:n.665+130T>A
NM_001374425.1:c.600+126T>A	NP_001361354.1:n.600+126T>A
NM_001374426.1:c.168+126T>A	NP_001361355.1:n.168+126T>A
NM_001374427.1:c.168+126T>A	NP_001361356.1:n.168+126T>A
NM_002617.4:c.600+126T>A MANE Select	NP_002608.1:n.600+126T>A
NM_153818.2:c.600+126T>A	NP_722540.1:n.600+126T>A
NR_164636.1:n.715+130T>A