Canonical Allele Identifier: CA1624312548

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969677A= , CM000668.2:g.42969677A=	GRCh38
NC_000006.11:g.42937415A= , CM000668.1:g.42937415A=	GRCh37
NC_000006.10:g.43045393A=	NCBI36
NG_008370.1:g.14567T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1358T= MANE Select	ENSP00000303511.8:p.Leu453=
ENST00000244546.4:c.1358T=	ENSP00000244546.4:p.Leu453=
ENST00000304611.12:c.1358T=	ENSP00000303511.8:p.Leu453=
NM_000287.3:c.1358T=	NP_000278.3:p.Leu453=
NM_001316313.1:c.1094T=	NP_001303242.1:p.Leu365=
NR_133009.1:n.1451T=
XM_011514661.1:c.1274T=	XP_011512963.1:p.Leu425=
XR_926246.1:n.1451T=
XM_011514661.2:c.1274T=	XP_011512963.1:p.Leu425=
XR_001743466.2:n.2432T=
NM_000287.4:c.1358T= MANE Select	NP_000278.3:p.Leu453=
NM_001316313.2:c.1094T=	NP_001303242.1:p.Leu365=
NR_133009.2:n.1389T=