Canonical Allele Identifier: CA337990582

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2412451C>G , CM000663.2:g.2412451C>G	GRCh38
NC_000001.10:g.2343890C>G , CM000663.1:g.2343890C>G	GRCh37
NC_000001.9:g.2333750C>G	NCBI36
NG_008342.1:g.5121G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002617.4:c.52G>C MANE Select	NP_002608.1:p.Asp18His
ENST00000447513.7:c.52G>C MANE Select	ENSP00000407922.2:p.Asp18His
NM_001374425.1:c.52G>C	NP_001361354.1:p.Asp18His
NM_001374426.1:c.-321+1146G>C	NP_001361355.1:n.-321+1146G>C
NM_001374427.1:c.-321+1146G>C	NP_001361356.1:n.-321+1146G>C
NM_002617.3:c.52G>C	NP_002608.1:p.Asp18His
NM_153818.1:c.52G>C	NP_722540.1:p.Asp18His
NM_153818.2:c.52G>C	NP_722540.1:p.Asp18His
NR_164636.1:n.231+1146G>C
ENST00000288774.7:c.52G>C	ENSP00000288774.3:p.Asp18His
ENST00000288774.8:c.52G>C	ENSP00000288774.3:p.Asp18His
ENST00000447513.6:c.52G>C	ENSP00000407922.2:p.Asp18His
ENST00000507596.5:c.52G>C	ENSP00000424291.1:p.Asp18His
ENST00000508384.5:c.-321+1146G>C	ENSP00000464289.1:n.-321+1146G>C
ENST00000510434.1:c.52G>C	ENSP00000423051.1:p.Asp18His
ENST00000514502.1:c.52G>C	ENSP00000425924.1:p.Asp18His
ENST00000650293.1:c.6G>C
XM_011541573.1:c.52G>C	XP_011539875.1:p.Asp18His
XM_011541575.1:c.-321+1146G>C	XP_011539877.1:n.-321+1146G>C
XM_011541576.1:c.52G>C	XP_011539878.1:p.Asp18His
XM_011541576.2:c.52G>C	XP_011539878.1:p.Asp18His
XR_946666.1:n.172G>C
XR_946666.2:n.121G>C