Canonical Allele Identifier: CA538139

Gene: PEX10

Linked Data

• ClinVar Variation Id: 857163
• ClinVar RCV Id: RCV001062781 ; RCV001833615
• dbSNP Id: rs780485807
• ExAC: 1:2339944 A / C
• gnomAD v2: 1-2339944-A-C
• gnomAD v4: 1-2408505-A-C
• MyVariant Identifiers: chr1:g.2339944A>C (hg19) ; chr1:g.2408505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408505A>C , CM000663.2:g.2408505A>C	GRCh38
NC_000001.10:g.2339944A>C , CM000663.1:g.2339944A>C	GRCh37
NC_000001.9:g.2329804A>C	NCBI36
NG_008342.1:g.9067T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.547T>G	ENSP00000288774.3:p.Tyr183Asp
ENST00000447513.7:c.547T>G MANE Select	ENSP00000407922.2:p.Tyr183Asp
ENST00000650293.1:c.501T>G
ENST00000288774.7:c.547T>G	ENSP00000288774.3:p.Tyr183Asp
ENST00000447513.6:c.547T>G	ENSP00000407922.2:p.Tyr183Asp
ENST00000507596.5:c.547T>G	ENSP00000424291.1:p.Tyr183Asp
ENST00000510434.1:c.547T>G	ENSP00000423051.1:p.Tyr183Asp
NM_002617.3:c.547T>G	NP_002608.1:p.Tyr183Asp
NM_153818.1:c.547T>G	NP_722540.1:p.Tyr183Asp
XM_011541573.1:c.547T>G	XP_011539875.1:p.Tyr183Asp
XM_011541574.1:c.115T>G	XP_011539876.1:p.Tyr39Asp
XM_011541575.1:c.115T>G	XP_011539877.1:p.Tyr39Asp
XM_011541576.1:c.547T>G	XP_011539878.1:p.Tyr183Asp
XR_946666.1:n.667T>G
XM_011541576.2:c.547T>G	XP_011539878.1:p.Tyr183Asp
XR_946666.2:n.616T>G
NM_001374425.1:c.547T>G	NP_001361354.1:p.Tyr183Asp
NM_001374426.1:c.115T>G	NP_001361355.1:p.Tyr39Asp
NM_001374427.1:c.115T>G	NP_001361356.1:p.Tyr39Asp
NM_002617.4:c.547T>G MANE Select	NP_002608.1:p.Tyr183Asp
NM_153818.2:c.547T>G	NP_722540.1:p.Tyr183Asp
NR_164636.1:n.666T>G