Canonical Allele Identifier: CA537987

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1029463
• ClinVar RCV Id: RCV001330745 ; RCV002546411
• dbSNP Id: rs371030713
• ExAC: 1:2337940 C / T
• gnomAD v2: 1-2337940-C-T
• gnomAD v3: 1-2406501-C-T
• gnomAD v4: 1-2406501-C-T
• MyVariant Identifiers: chr1:g.2337940C>T (hg19) ; chr1:g.2406501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406501C>T , CM000663.2:g.2406501C>T	GRCh38
NC_000001.10:g.2337940C>T , CM000663.1:g.2337940C>T	GRCh37
NC_000001.9:g.2327800C>T	NCBI36
NG_008342.1:g.11071G>A
NG_016128.1:g.19727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.955G>A	ENSP00000288774.3:p.Ala319Thr
ENST00000447513.7:c.895G>A MANE Select	ENSP00000407922.2:p.Ala299Thr
ENST00000650293.1:c.849G>A
ENST00000288774.7:c.955G>A	ENSP00000288774.3:p.Ala319Thr
ENST00000447513.6:c.895G>A	ENSP00000407922.2:p.Ala299Thr
ENST00000507596.5:c.895G>A	ENSP00000424291.1:p.Ala299Thr
NM_002617.3:c.895G>A	NP_002608.1:p.Ala299Thr
NM_153818.1:c.955G>A	NP_722540.1:p.Ala319Thr
XM_011541573.1:c.952G>A	XP_011539875.1:p.Ala318Thr
XM_011541574.1:c.520G>A	XP_011539876.1:p.Ala174Thr
XM_011541575.1:c.520G>A	XP_011539877.1:p.Ala174Thr
XR_946666.1:n.1011G>A
XR_946666.2:n.960G>A
NM_001374425.1:c.952G>A	NP_001361354.1:p.Ala318Thr
NM_001374426.1:c.520G>A	NP_001361355.1:p.Ala174Thr
NM_001374427.1:c.463G>A	NP_001361356.1:p.Ala155Thr
NM_002617.4:c.895G>A MANE Select	NP_002608.1:p.Ala299Thr
NM_153818.2:c.955G>A	NP_722540.1:p.Ala319Thr
NR_164636.1:n.1010G>A