Canonical Allele Identifier: CA733604268

Gene: PEX10

Linked Data

• dbSNP Id: rs1416695340
• gnomAD v3: 1-2408951-T-C
• gnomAD v4: 1-2408951-T-C
• MyVariant Identifiers: chr1:g.2340390T>C (hg19) ; chr1:g.2408951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408951T>C , CM000663.2:g.2408951T>C	GRCh38
NC_000001.10:g.2340390T>C , CM000663.1:g.2340390T>C	GRCh37
NC_000001.9:g.2330250T>C	NCBI36
NG_008342.1:g.8621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.194-93A>G	ENSP00000288774.3:n.194-93A>G
ENST00000447513.7:c.194-93A>G MANE Select	ENSP00000407922.2:n.194-93A>G
ENST00000650293.1:c.148-93A>G
ENST00000288774.7:c.194-93A>G	ENSP00000288774.3:n.194-93A>G
ENST00000447513.6:c.194-93A>G	ENSP00000407922.2:n.194-93A>G
ENST00000502666.1:c.399-93A>G	ENSP00000461951.1:n.399-93A>G
ENST00000507596.5:c.194-93A>G	ENSP00000424291.1:n.194-93A>G
ENST00000508384.5:c.-239-93A>G	ENSP00000464289.1:n.-239-93A>G
ENST00000510434.1:c.194-93A>G	ENSP00000423051.1:n.194-93A>G
ENST00000514502.1:c.*211-93A>G	ENSP00000425924.1:n.*211-93A>G
ENST00000515760.1:n.328-93A>G
NM_002617.3:c.194-93A>G	NP_002608.1:n.194-93A>G
NM_153818.1:c.194-93A>G	NP_722540.1:n.194-93A>G
XM_011541573.1:c.194-93A>G	XP_011539875.1:n.194-93A>G
XM_011541574.1:c.-239-93A>G	XP_011539876.1:n.-239-93A>G
XM_011541575.1:c.-239-93A>G	XP_011539877.1:n.-239-93A>G
XM_011541576.1:c.194-93A>G	XP_011539878.1:n.194-93A>G
XR_946666.1:n.314-93A>G
XM_011541576.2:c.194-93A>G	XP_011539878.1:n.194-93A>G
XR_946666.2:n.263-93A>G
NM_001374425.1:c.194-93A>G	NP_001361354.1:n.194-93A>G
NM_001374426.1:c.-239-93A>G	NP_001361355.1:n.-239-93A>G
NM_001374427.1:c.-239-93A>G	NP_001361356.1:n.-239-93A>G
NM_002617.4:c.194-93A>G MANE Select	NP_002608.1:n.194-93A>G
NM_153818.2:c.194-93A>G	NP_722540.1:n.194-93A>G
NR_164636.1:n.313-93A>G