Canonical Allele Identifier: CA3811614

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978663C>G , CM000668.2:g.42978663C>G	GRCh38
NC_000006.11:g.42946401C>G , CM000668.1:g.42946401C>G	GRCh37
NC_000006.10:g.43054379C>G	NCBI36
NG_008370.1:g.5581G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.488G>C MANE Select	NP_000278.3:p.Arg163Pro
ENST00000304611.13:c.488G>C MANE Select	ENSP00000303511.8:p.Arg163Pro
NM_000287.3:c.488G>C	NP_000278.3:p.Arg163Pro
NM_001316313.1:c.488G>C	NP_001303242.1:p.Arg163Pro
NM_001316313.2:c.488G>C	NP_001303242.1:p.Arg163Pro
NR_133009.1:n.581G>C
NR_133009.2:n.519G>C
ENST00000244546.4:c.488G>C	ENSP00000244546.4:p.Arg163Pro
ENST00000304611.12:c.488G>C	ENSP00000303511.8:p.Arg163Pro
XM_011514661.1:c.488G>C	XP_011512963.1:p.Arg163Pro
XM_011514661.2:c.488G>C	XP_011512963.1:p.Arg163Pro
XR_001743466.2:n.1562G>C
XR_926246.1:n.581G>C