Canonical Allele Identifier: CA364158401

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42974059A>T , CM000668.2:g.42974059A>T	GRCh38
NC_000006.11:g.42941797A>T , CM000668.1:g.42941797A>T	GRCh37
NC_000006.10:g.43049775A>T	NCBI36
NG_008370.1:g.10185T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1074T>A MANE Select	NP_000278.3:p.Cys358Ter
ENST00000304611.13:c.1074T>A MANE Select	ENSP00000303511.8:p.Cys358Ter
NM_000287.3:c.1074T>A	NP_000278.3:p.Cys358Ter
NM_001316313.1:c.810T>A	NP_001303242.1:p.Cys270Ter
NM_001316313.2:c.810T>A	NP_001303242.1:p.Cys270Ter
NR_133009.1:n.1167T>A
NR_133009.2:n.1105T>A
ENST00000244546.4:c.1074T>A	ENSP00000244546.4:p.Cys358Ter
ENST00000304611.12:c.1074T>A	ENSP00000303511.8:p.Cys358Ter
XM_011514661.1:c.1046+816T>A	XP_011512963.1:n.1046+816T>A
XM_011514661.2:c.1046+816T>A	XP_011512963.1:n.1046+816T>A
XR_001743466.2:n.2148T>A
XR_926246.1:n.1167T>A