Canonical Allele Identifier: CA364150869

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965261C>G , CM000668.2:g.42965261C>G	GRCh38
NC_000006.11:g.42932999C>G , CM000668.1:g.42932999C>G	GRCh37
NC_000006.10:g.43040977C>G	NCBI36
NG_008370.1:g.18983G>C
NG_008396.1:g.9500C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2579G>C MANE Select	NP_000278.3:p.Arg860Pro
ENST00000304611.13:c.2579G>C MANE Select	ENSP00000303511.8:p.Arg860Pro
NM_000287.3:c.2579G>C	NP_000278.3:p.Arg860Pro
NM_001316313.1:c.2315G>C	NP_001303242.1:p.Arg772Pro
NM_001316313.2:c.2315G>C	NP_001303242.1:p.Arg772Pro
NR_133009.1:n.2425G>C
NR_133009.2:n.2363G>C
ENST00000244546.4:c.2332G>C	ENSP00000244546.4:n.2332G>C
ENST00000304611.12:c.2579G>C	ENSP00000303511.8:p.Arg860Pro
XM_011514661.1:c.2495G>C	XP_011512963.1:p.Arg832Pro
XM_011514661.2:c.2495G>C	XP_011512963.1:p.Arg832Pro
XR_001743466.2:n.3541G>C