Canonical Allele Identifier: CA364160062

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42974992G>A , CM000668.2:g.42974992G>A	GRCh38
NC_000006.11:g.42942730G>A , CM000668.1:g.42942730G>A	GRCh37
NC_000006.10:g.43050708G>A	NCBI36
NG_008370.1:g.9252C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.929C>T MANE Select	NP_000278.3:p.Ser310Leu
ENST00000304611.13:c.929C>T MANE Select	ENSP00000303511.8:p.Ser310Leu
NM_000287.3:c.929C>T	NP_000278.3:p.Ser310Leu
NM_001316313.1:c.665C>T	NP_001303242.1:p.Ser222Leu
NM_001316313.2:c.665C>T	NP_001303242.1:p.Ser222Leu
NR_133009.1:n.1022C>T
NR_133009.2:n.960C>T
ENST00000244546.4:c.929C>T	ENSP00000244546.4:p.Ser310Leu
ENST00000304611.12:c.929C>T	ENSP00000303511.8:p.Ser310Leu
XM_011514661.1:c.929C>T	XP_011512963.1:p.Ser310Leu
XM_011514661.2:c.929C>T	XP_011512963.1:p.Ser310Leu
XR_001743466.2:n.2003C>T
XR_926246.1:n.1022C>T