Canonical Allele Identifier: CA138222771

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966050G>A , CM000668.2:g.42966050G>A	GRCh38
NC_000006.11:g.42933788G>A , CM000668.1:g.42933788G>A	GRCh37
NC_000006.10:g.43041766G>A	NCBI36
NG_008370.1:g.18194C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2356C>T MANE Select	NP_000278.3:p.Arg786Trp
ENST00000304611.13:c.2356C>T MANE Select	ENSP00000303511.8:p.Arg786Trp
NM_000287.3:c.2356C>T	NP_000278.3:p.Arg786Trp
NM_001316313.1:c.2092C>T	NP_001303242.1:p.Arg698Trp
NM_001316313.2:c.2092C>T	NP_001303242.1:p.Arg698Trp
NR_133009.1:n.2209-261C>T
NR_133009.2:n.2147-261C>T
ENST00000244546.4:c.2116-261C>T	ENSP00000244546.4:n.2116-261C>T
ENST00000304611.12:c.2356C>T	ENSP00000303511.8:p.Arg786Trp
XM_011514661.1:c.2272C>T	XP_011512963.1:p.Arg758Trp
XM_011514661.2:c.2272C>T	XP_011512963.1:p.Arg758Trp
XR_001743466.2:n.3318C>T