Canonical Allele Identifier: CA337984203

Gene: PEX10

Linked Data

• dbSNP Id: rs1255775440
• gnomAD v2: 1-2337957-C-T
• MyVariant Identifiers: chr1:g.2337957C>T (hg19) ; chr1:g.2406518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406518C>T , CM000663.2:g.2406518C>T	GRCh38
NC_000001.10:g.2337957C>T , CM000663.1:g.2337957C>T	GRCh37
NC_000001.9:g.2327817C>T	NCBI36
NG_008342.1:g.11054G>A
NG_016128.1:g.19744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.938G>A	ENSP00000288774.3:p.Cys313Tyr
ENST00000447513.7:c.878G>A MANE Select	ENSP00000407922.2:p.Cys293Tyr
ENST00000650293.1:c.832G>A
ENST00000288774.7:c.938G>A	ENSP00000288774.3:p.Cys313Tyr
ENST00000447513.6:c.878G>A	ENSP00000407922.2:p.Cys293Tyr
ENST00000507596.5:c.878G>A	ENSP00000424291.1:p.Cys293Tyr
ENST00000510434.1:c.*244G>A	ENSP00000423051.1:n.*244G>A
NM_002617.3:c.878G>A	NP_002608.1:p.Cys293Tyr
NM_153818.1:c.938G>A	NP_722540.1:p.Cys313Tyr
XM_011541573.1:c.935G>A	XP_011539875.1:p.Cys312Tyr
XM_011541574.1:c.503G>A	XP_011539876.1:p.Cys168Tyr
XM_011541575.1:c.503G>A	XP_011539877.1:p.Cys168Tyr
XR_946666.1:n.994G>A
XR_946666.2:n.943G>A
NM_001374425.1:c.935G>A	NP_001361354.1:p.Cys312Tyr
NM_001374426.1:c.503G>A	NP_001361355.1:p.Cys168Tyr
NM_001374427.1:c.446G>A	NP_001361356.1:p.Cys149Tyr
NM_002617.4:c.878G>A MANE Select	NP_002608.1:p.Cys293Tyr
NM_153818.2:c.938G>A	NP_722540.1:p.Cys313Tyr
NR_164636.1:n.993G>A