Canonical Allele Identifier: CA337984145

Gene: PEX10

Linked Data

• gnomAD v4: 1-2406509-C-T
• MyVariant Identifiers: chr1:g.2337948C>T (hg19) ; chr1:g.2406509C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406509C>T , CM000663.2:g.2406509C>T	GRCh38
NC_000001.10:g.2337948C>T , CM000663.1:g.2337948C>T	GRCh37
NC_000001.9:g.2327808C>T	NCBI36
NG_008342.1:g.11063G>A
NG_016128.1:g.19735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.947G>A	ENSP00000288774.3:p.Cys316Tyr
ENST00000447513.7:c.887G>A MANE Select	ENSP00000407922.2:p.Cys296Tyr
ENST00000650293.1:c.841G>A
ENST00000288774.7:c.947G>A	ENSP00000288774.3:p.Cys316Tyr
ENST00000447513.6:c.887G>A	ENSP00000407922.2:p.Cys296Tyr
ENST00000507596.5:c.887G>A	ENSP00000424291.1:p.Cys296Tyr
NM_002617.3:c.887G>A	NP_002608.1:p.Cys296Tyr
NM_153818.1:c.947G>A	NP_722540.1:p.Cys316Tyr
XM_011541573.1:c.944G>A	XP_011539875.1:p.Cys315Tyr
XM_011541574.1:c.512G>A	XP_011539876.1:p.Cys171Tyr
XM_011541575.1:c.512G>A	XP_011539877.1:p.Cys171Tyr
XR_946666.1:n.1003G>A
XR_946666.2:n.952G>A
NM_001374425.1:c.944G>A	NP_001361354.1:p.Cys315Tyr
NM_001374426.1:c.512G>A	NP_001361355.1:p.Cys171Tyr
NM_001374427.1:c.455G>A	NP_001361356.1:p.Cys152Tyr
NM_002617.4:c.887G>A MANE Select	NP_002608.1:p.Cys296Tyr
NM_153818.2:c.947G>A	NP_722540.1:p.Cys316Tyr
NR_164636.1:n.1002G>A