Canonical Allele Identifier: CA337984101

Gene: PEX10

Linked Data

• gnomAD v4: 1-2406501-C-A
• MyVariant Identifiers: chr1:g.2337940C>A (hg19) ; chr1:g.2406501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406501C>A , CM000663.2:g.2406501C>A	GRCh38
NC_000001.10:g.2337940C>A , CM000663.1:g.2337940C>A	GRCh37
NC_000001.9:g.2327800C>A	NCBI36
NG_008342.1:g.11071G>T
NG_016128.1:g.19727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.955G>T	ENSP00000288774.3:p.Ala319Ser
ENST00000447513.7:c.895G>T MANE Select	ENSP00000407922.2:p.Ala299Ser
ENST00000650293.1:c.849G>T
ENST00000288774.7:c.955G>T	ENSP00000288774.3:p.Ala319Ser
ENST00000447513.6:c.895G>T	ENSP00000407922.2:p.Ala299Ser
ENST00000507596.5:c.895G>T	ENSP00000424291.1:p.Ala299Ser
NM_002617.3:c.895G>T	NP_002608.1:p.Ala299Ser
NM_153818.1:c.955G>T	NP_722540.1:p.Ala319Ser
XM_011541573.1:c.952G>T	XP_011539875.1:p.Ala318Ser
XM_011541574.1:c.520G>T	XP_011539876.1:p.Ala174Ser
XM_011541575.1:c.520G>T	XP_011539877.1:p.Ala174Ser
XR_946666.1:n.1011G>T
XR_946666.2:n.960G>T
NM_001374425.1:c.952G>T	NP_001361354.1:p.Ala318Ser
NM_001374426.1:c.520G>T	NP_001361355.1:p.Ala174Ser
NM_001374427.1:c.463G>T	NP_001361356.1:p.Ala155Ser
NM_002617.4:c.895G>T MANE Select	NP_002608.1:p.Ala299Ser
NM_153818.2:c.955G>T	NP_722540.1:p.Ala319Ser
NR_164636.1:n.1010G>T