Canonical Allele Identifier: CA337984021

Gene: PEX10

Linked Data

• gnomAD v4: 1-2406487-G-C
• MyVariant Identifiers: chr1:g.2337926G>C (hg19) ; chr1:g.2406487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406487G>C , CM000663.2:g.2406487G>C	GRCh38
NC_000001.10:g.2337926G>C , CM000663.1:g.2337926G>C	GRCh37
NC_000001.9:g.2327786G>C	NCBI36
NG_008342.1:g.11085C>G
NG_016128.1:g.19713G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.969C>G	ENSP00000288774.3:p.Ser323Arg
ENST00000447513.7:c.909C>G MANE Select	ENSP00000407922.2:p.Ser303Arg
ENST00000650293.1:c.863C>G
ENST00000288774.7:c.969C>G	ENSP00000288774.3:p.Ser323Arg
ENST00000447513.6:c.909C>G	ENSP00000407922.2:p.Ser303Arg
ENST00000507596.5:c.909C>G	ENSP00000424291.1:p.Ser303Arg
NM_002617.3:c.909C>G	NP_002608.1:p.Ser303Arg
NM_153818.1:c.969C>G	NP_722540.1:p.Ser323Arg
XM_011541573.1:c.966C>G	XP_011539875.1:p.Ser322Arg
XM_011541574.1:c.534C>G	XP_011539876.1:p.Ser178Arg
XM_011541575.1:c.534C>G	XP_011539877.1:p.Ser178Arg
XR_946666.1:n.1025C>G
XR_946666.2:n.974C>G
NM_001374425.1:c.966C>G	NP_001361354.1:p.Ser322Arg
NM_001374426.1:c.534C>G	NP_001361355.1:p.Ser178Arg
NM_001374427.1:c.477C>G	NP_001361356.1:p.Ser159Arg
NM_002617.4:c.909C>G MANE Select	NP_002608.1:p.Ser303Arg
NM_153818.2:c.969C>G	NP_722540.1:p.Ser323Arg
NR_164636.1:n.1024C>G