Canonical Allele Identifier: CA364151277

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965680C>T , CM000668.2:g.42965680C>T	GRCh38
NC_000006.11:g.42933418C>T , CM000668.1:g.42933418C>T	GRCh37
NC_000006.10:g.43041396C>T	NCBI36
NG_008370.1:g.18564G>A
NG_008396.1:g.9919C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2471+1G>A MANE Select	NP_000278.3:n.2471+1G>A
ENST00000304611.13:c.2471+1G>A MANE Select	ENSP00000303511.8:n.2471+1G>A
NM_000287.3:c.2471+1G>A	NP_000278.3:n.2471+1G>A
NM_001316313.1:c.2207+1G>A	NP_001303242.1:n.2207+1G>A
NM_001316313.2:c.2207+1G>A	NP_001303242.1:n.2207+1G>A
NR_133009.1:n.2317+1G>A
NR_133009.2:n.2255+1G>A
ENST00000244546.4:c.2224+1G>A	ENSP00000244546.4:n.2224+1G>A
ENST00000304611.12:c.2471+1G>A	ENSP00000303511.8:n.2471+1G>A
XM_011514661.1:c.2387+1G>A	XP_011512963.1:n.2387+1G>A
XM_011514661.2:c.2387+1G>A	XP_011512963.1:n.2387+1G>A
XR_001743466.2:n.3433+1G>A