Canonical Allele Identifier: CA337987178

Gene: PEX10

Linked Data

• dbSNP Id: rs1570105355
• gnomAD v4: 1-2408508-A-G
• MyVariant Identifiers: chr1:g.2339947A>G (hg19) ; chr1:g.2408508A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408508A>G , CM000663.2:g.2408508A>G	GRCh38
NC_000001.10:g.2339947A>G , CM000663.1:g.2339947A>G	GRCh37
NC_000001.9:g.2329807A>G	NCBI36
NG_008342.1:g.9064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.544T>C	ENSP00000288774.3:p.Phe182Leu
ENST00000447513.7:c.544T>C MANE Select	ENSP00000407922.2:p.Phe182Leu
ENST00000650293.1:c.498T>C
ENST00000288774.7:c.544T>C	ENSP00000288774.3:p.Phe182Leu
ENST00000447513.6:c.544T>C	ENSP00000407922.2:p.Phe182Leu
ENST00000507596.5:c.544T>C	ENSP00000424291.1:p.Phe182Leu
ENST00000510434.1:c.544T>C	ENSP00000423051.1:p.Phe182Leu
NM_002617.3:c.544T>C	NP_002608.1:p.Phe182Leu
NM_153818.1:c.544T>C	NP_722540.1:p.Phe182Leu
XM_011541573.1:c.544T>C	XP_011539875.1:p.Phe182Leu
XM_011541574.1:c.112T>C	XP_011539876.1:p.Phe38Leu
XM_011541575.1:c.112T>C	XP_011539877.1:p.Phe38Leu
XM_011541576.1:c.544T>C	XP_011539878.1:p.Phe182Leu
XR_946666.1:n.664T>C
XM_011541576.2:c.544T>C	XP_011539878.1:p.Phe182Leu
XR_946666.2:n.613T>C
NM_001374425.1:c.544T>C	NP_001361354.1:p.Phe182Leu
NM_001374426.1:c.112T>C	NP_001361355.1:p.Phe38Leu
NM_001374427.1:c.112T>C	NP_001361356.1:p.Phe38Leu
NM_002617.4:c.544T>C MANE Select	NP_002608.1:p.Phe182Leu
NM_153818.2:c.544T>C	NP_722540.1:p.Phe182Leu
NR_164636.1:n.663T>C