Canonical Allele Identifier: CA1624312550

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969678G= , CM000668.2:g.42969678G=	GRCh38
NC_000006.11:g.42937416G= , CM000668.1:g.42937416G=	GRCh37
NC_000006.10:g.43045394G=	NCBI36
NG_008370.1:g.14566C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1357C= MANE Select	ENSP00000303511.8:p.Leu453=
ENST00000244546.4:c.1357C=	ENSP00000244546.4:p.Leu453=
ENST00000304611.12:c.1357C=	ENSP00000303511.8:p.Leu453=
NM_000287.3:c.1357C=	NP_000278.3:p.Leu453=
NM_001316313.1:c.1093C=	NP_001303242.1:p.Leu365=
NR_133009.1:n.1450C=
XM_011514661.1:c.1273C=	XP_011512963.1:p.Leu425=
XR_926246.1:n.1450C=
XM_011514661.2:c.1273C=	XP_011512963.1:p.Leu425=
XR_001743466.2:n.2431C=
NM_000287.4:c.1357C= MANE Select	NP_000278.3:p.Leu453=
NM_001316313.2:c.1093C=	NP_001303242.1:p.Leu365=
NR_133009.2:n.1388C=