Canonical Allele Identifier: CA337989104

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408841-C-G
• MyVariant Identifiers: chr1:g.2340280C>G (hg19) ; chr1:g.2408841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408841C>G , CM000663.2:g.2408841C>G	GRCh38
NC_000001.10:g.2340280C>G , CM000663.1:g.2340280C>G	GRCh37
NC_000001.9:g.2330140C>G	NCBI36
NG_008342.1:g.8731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.211G>C	ENSP00000288774.3:p.Glu71Gln
ENST00000447513.7:c.211G>C MANE Select	ENSP00000407922.2:p.Glu71Gln
ENST00000650293.1:c.165G>C
ENST00000288774.7:c.211G>C	ENSP00000288774.3:p.Glu71Gln
ENST00000447513.6:c.211G>C	ENSP00000407922.2:p.Glu71Gln
ENST00000502666.1:c.416G>C	ENSP00000461951.1:n.416G>C
ENST00000507596.5:c.211G>C	ENSP00000424291.1:p.Glu71Gln
ENST00000508384.5:c.-222G>C	ENSP00000464289.1:n.-222G>C
ENST00000510434.1:c.211G>C	ENSP00000423051.1:p.Glu71Gln
ENST00000514502.1:c.*228G>C	ENSP00000425924.1:n.*228G>C
ENST00000515760.1:n.345G>C
NM_002617.3:c.211G>C	NP_002608.1:p.Glu71Gln
NM_153818.1:c.211G>C	NP_722540.1:p.Glu71Gln
XM_011541573.1:c.211G>C	XP_011539875.1:p.Glu71Gln
XM_011541574.1:c.-222G>C	XP_011539876.1:n.-222G>C
XM_011541575.1:c.-222G>C	XP_011539877.1:n.-222G>C
XM_011541576.1:c.211G>C	XP_011539878.1:p.Glu71Gln
XR_946666.1:n.331G>C
XM_011541576.2:c.211G>C	XP_011539878.1:p.Glu71Gln
XR_946666.2:n.280G>C
NM_001374425.1:c.211G>C	NP_001361354.1:p.Glu71Gln
NM_001374426.1:c.-222G>C	NP_001361355.1:n.-222G>C
NM_001374427.1:c.-222G>C	NP_001361356.1:n.-222G>C
NM_002617.4:c.211G>C MANE Select	NP_002608.1:p.Glu71Gln
NM_153818.2:c.211G>C	NP_722540.1:p.Glu71Gln
NR_164636.1:n.330G>C