Canonical Allele Identifier: CA337984046

Gene: PEX10

Linked Data

• dbSNP Id: rs1336552316
• gnomAD v2: 1-2337931-T-G
• gnomAD v4: 1-2406492-T-G
• MyVariant Identifiers: chr1:g.2337931T>G (hg19) ; chr1:g.2406492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406492T>G , CM000663.2:g.2406492T>G	GRCh38
NC_000001.10:g.2337931T>G , CM000663.1:g.2337931T>G	GRCh37
NC_000001.9:g.2327791T>G	NCBI36
NG_008342.1:g.11080A>C
NG_016128.1:g.19718T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.964A>C	ENSP00000288774.3:p.Ser322Arg
ENST00000447513.7:c.904A>C MANE Select	ENSP00000407922.2:p.Ser302Arg
ENST00000650293.1:c.858A>C
ENST00000288774.7:c.964A>C	ENSP00000288774.3:p.Ser322Arg
ENST00000447513.6:c.904A>C	ENSP00000407922.2:p.Ser302Arg
ENST00000507596.5:c.904A>C	ENSP00000424291.1:p.Ser302Arg
NM_002617.3:c.904A>C	NP_002608.1:p.Ser302Arg
NM_153818.1:c.964A>C	NP_722540.1:p.Ser322Arg
XM_011541573.1:c.961A>C	XP_011539875.1:p.Ser321Arg
XM_011541574.1:c.529A>C	XP_011539876.1:p.Ser177Arg
XM_011541575.1:c.529A>C	XP_011539877.1:p.Ser177Arg
XR_946666.1:n.1020A>C
XR_946666.2:n.969A>C
NM_001374425.1:c.961A>C	NP_001361354.1:p.Ser321Arg
NM_001374426.1:c.529A>C	NP_001361355.1:p.Ser177Arg
NM_001374427.1:c.472A>C	NP_001361356.1:p.Ser158Arg
NM_002617.4:c.904A>C MANE Select	NP_002608.1:p.Ser302Arg
NM_153818.2:c.964A>C	NP_722540.1:p.Ser322Arg
NR_164636.1:n.1019A>C