Canonical Allele Identifier: CA337984093

Gene: PEX10

Linked Data

• dbSNP Id: rs78620392
• gnomAD v4: 1-2406500-G-T
• MyVariant Identifiers: chr1:g.2337939G>T (hg19) ; chr1:g.2406500G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406500G>T , CM000663.2:g.2406500G>T	GRCh38
NC_000001.10:g.2337939G>T , CM000663.1:g.2337939G>T	GRCh37
NC_000001.9:g.2327799G>T	NCBI36
NG_008342.1:g.11072C>A
NG_016128.1:g.19726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.956C>A	ENSP00000288774.3:p.Ala319Glu
ENST00000447513.7:c.896C>A MANE Select	ENSP00000407922.2:p.Ala299Glu
ENST00000650293.1:c.850C>A
ENST00000288774.7:c.956C>A	ENSP00000288774.3:p.Ala319Glu
ENST00000447513.6:c.896C>A	ENSP00000407922.2:p.Ala299Glu
ENST00000507596.5:c.896C>A	ENSP00000424291.1:p.Ala299Glu
NM_002617.3:c.896C>A	NP_002608.1:p.Ala299Glu
NM_153818.1:c.956C>A	NP_722540.1:p.Ala319Glu
XM_011541573.1:c.953C>A	XP_011539875.1:p.Ala318Glu
XM_011541574.1:c.521C>A	XP_011539876.1:p.Ala174Glu
XM_011541575.1:c.521C>A	XP_011539877.1:p.Ala174Glu
XR_946666.1:n.1012C>A
XR_946666.2:n.961C>A
NM_001374425.1:c.953C>A	NP_001361354.1:p.Ala318Glu
NM_001374426.1:c.521C>A	NP_001361355.1:p.Ala174Glu
NM_001374427.1:c.464C>A	NP_001361356.1:p.Ala155Glu
NM_002617.4:c.896C>A MANE Select	NP_002608.1:p.Ala299Glu
NM_153818.2:c.956C>A	NP_722540.1:p.Ala319Glu
NR_164636.1:n.1011C>A