Canonical Allele Identifier: CA337984147

Gene: PEX10

Linked Data

• dbSNP Id: rs1193551613
• gnomAD v2: 1-2337949-A-G
• gnomAD v4: 1-2406510-A-G
• MyVariant Identifiers: chr1:g.2337949A>G (hg19) ; chr1:g.2406510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406510A>G , CM000663.2:g.2406510A>G	GRCh38
NC_000001.10:g.2337949A>G , CM000663.1:g.2337949A>G	GRCh37
NC_000001.9:g.2327809A>G	NCBI36
NG_008342.1:g.11062T>C
NG_016128.1:g.19736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.946T>C	ENSP00000288774.3:p.Cys316Arg
ENST00000447513.7:c.886T>C MANE Select	ENSP00000407922.2:p.Cys296Arg
ENST00000650293.1:c.840T>C
ENST00000288774.7:c.946T>C	ENSP00000288774.3:p.Cys316Arg
ENST00000447513.6:c.886T>C	ENSP00000407922.2:p.Cys296Arg
ENST00000507596.5:c.886T>C	ENSP00000424291.1:p.Cys296Arg
NM_002617.3:c.886T>C	NP_002608.1:p.Cys296Arg
NM_153818.1:c.946T>C	NP_722540.1:p.Cys316Arg
XM_011541573.1:c.943T>C	XP_011539875.1:p.Cys315Arg
XM_011541574.1:c.511T>C	XP_011539876.1:p.Cys171Arg
XM_011541575.1:c.511T>C	XP_011539877.1:p.Cys171Arg
XR_946666.1:n.1002T>C
XR_946666.2:n.951T>C
NM_001374425.1:c.943T>C	NP_001361354.1:p.Cys315Arg
NM_001374426.1:c.511T>C	NP_001361355.1:p.Cys171Arg
NM_001374427.1:c.454T>C	NP_001361356.1:p.Cys152Arg
NM_002617.4:c.886T>C MANE Select	NP_002608.1:p.Cys296Arg
NM_153818.2:c.946T>C	NP_722540.1:p.Cys316Arg
NR_164636.1:n.1001T>C