Canonical Allele Identifier: CA337987402

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408548-T-A
• MyVariant Identifiers: chr1:g.2339987T>A (hg19) ; chr1:g.2408548T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408548T>A , CM000663.2:g.2408548T>A	GRCh38
NC_000001.10:g.2339987T>A , CM000663.1:g.2339987T>A	GRCh37
NC_000001.9:g.2329847T>A	NCBI36
NG_008342.1:g.9024A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.504A>T	ENSP00000288774.3:p.Arg168Ser
ENST00000447513.7:c.504A>T MANE Select	ENSP00000407922.2:p.Arg168Ser
ENST00000650293.1:c.458A>T
ENST00000288774.7:c.504A>T	ENSP00000288774.3:p.Arg168Ser
ENST00000447513.6:c.504A>T	ENSP00000407922.2:p.Arg168Ser
ENST00000507596.5:c.504A>T	ENSP00000424291.1:p.Arg168Ser
ENST00000508384.5:c.72A>T	ENSP00000464289.1:p.Arg24Ser
ENST00000510434.1:c.504A>T	ENSP00000423051.1:p.Arg168Ser
NM_002617.3:c.504A>T	NP_002608.1:p.Arg168Ser
NM_153818.1:c.504A>T	NP_722540.1:p.Arg168Ser
XM_011541573.1:c.504A>T	XP_011539875.1:p.Arg168Ser
XM_011541574.1:c.72A>T	XP_011539876.1:p.Arg24Ser
XM_011541575.1:c.72A>T	XP_011539877.1:p.Arg24Ser
XM_011541576.1:c.504A>T	XP_011539878.1:p.Arg168Ser
XR_946666.1:n.624A>T
XM_011541576.2:c.504A>T	XP_011539878.1:p.Arg168Ser
XR_946666.2:n.573A>T
NM_001374425.1:c.504A>T	NP_001361354.1:p.Arg168Ser
NM_001374426.1:c.72A>T	NP_001361355.1:p.Arg24Ser
NM_001374427.1:c.72A>T	NP_001361356.1:p.Arg24Ser
NM_002617.4:c.504A>T MANE Select	NP_002608.1:p.Arg168Ser
NM_153818.2:c.504A>T	NP_722540.1:p.Arg168Ser
NR_164636.1:n.623A>T