Canonical Allele Identifier: CA337984155

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337951T>G (hg19) ; chr1:g.2406512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406512T>G , CM000663.2:g.2406512T>G	GRCh38
NC_000001.10:g.2337951T>G , CM000663.1:g.2337951T>G	GRCh37
NC_000001.9:g.2327811T>G	NCBI36
NG_008342.1:g.11060A>C
NG_016128.1:g.19738T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.944A>C	ENSP00000288774.3:p.Glu315Ala
ENST00000447513.7:c.884A>C MANE Select	ENSP00000407922.2:p.Glu295Ala
ENST00000650293.1:c.838A>C
ENST00000288774.7:c.944A>C	ENSP00000288774.3:p.Glu315Ala
ENST00000447513.6:c.884A>C	ENSP00000407922.2:p.Glu295Ala
ENST00000507596.5:c.884A>C	ENSP00000424291.1:p.Glu295Ala
NM_002617.3:c.884A>C	NP_002608.1:p.Glu295Ala
NM_153818.1:c.944A>C	NP_722540.1:p.Glu315Ala
XM_011541573.1:c.941A>C	XP_011539875.1:p.Glu314Ala
XM_011541574.1:c.509A>C	XP_011539876.1:p.Glu170Ala
XM_011541575.1:c.509A>C	XP_011539877.1:p.Glu170Ala
XR_946666.1:n.1000A>C
XR_946666.2:n.949A>C
NM_001374425.1:c.941A>C	NP_001361354.1:p.Glu314Ala
NM_001374426.1:c.509A>C	NP_001361355.1:p.Glu170Ala
NM_001374427.1:c.452A>C	NP_001361356.1:p.Glu151Ala
NM_002617.4:c.884A>C MANE Select	NP_002608.1:p.Glu295Ala
NM_153818.2:c.944A>C	NP_722540.1:p.Glu315Ala
NR_164636.1:n.999A>C