Canonical Allele Identifier: CA364154589

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968474C>A , CM000668.2:g.42968474C>A	GRCh38
NC_000006.11:g.42936212C>A , CM000668.1:g.42936212C>A	GRCh37
NC_000006.10:g.43044190C>A	NCBI36
NG_008370.1:g.15770G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1504G>T MANE Select	NP_000278.3:p.Glu502Ter
ENST00000304611.13:c.1504G>T MANE Select	ENSP00000303511.8:p.Glu502Ter
NM_000287.3:c.1504G>T	NP_000278.3:p.Glu502Ter
NM_001316313.1:c.1240G>T	NP_001303242.1:p.Glu414Ter
NM_001316313.2:c.1240G>T	NP_001303242.1:p.Glu414Ter
NR_133009.1:n.1597G>T
NR_133009.2:n.1535G>T
ENST00000244546.4:c.1504G>T	ENSP00000244546.4:p.Glu502Ter
ENST00000304611.12:c.1504G>T	ENSP00000303511.8:p.Glu502Ter
XM_011514661.1:c.1420G>T	XP_011512963.1:p.Glu474Ter
XM_011514661.2:c.1420G>T	XP_011512963.1:p.Glu474Ter
XR_001743466.2:n.2466G>T
XR_926246.1:n.1485G>T