Canonical Allele Identifier: CA180292

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965726G>A , CM000668.2:g.42965726G>A	GRCh38
NC_000006.11:g.42933464G>A , CM000668.1:g.42933464G>A	GRCh37
NC_000006.10:g.43041442G>A	NCBI36
NG_008370.1:g.18518C>T
NG_008396.1:g.9965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2426C>T MANE Select	ENSP00000303511.8:p.Ala809Val
ENST00000244546.4:c.2179C>T	ENSP00000244546.4:p.Pro727Ser
ENST00000304611.12:c.2426C>T	ENSP00000303511.8:p.Ala809Val
NM_000287.3:c.2426C>T	NP_000278.3:p.Ala809Val
NM_001316313.1:c.2162C>T	NP_001303242.1:p.Ala721Val
NR_133009.1:n.2272C>T
XM_011514661.1:c.2342C>T	XP_011512963.1:p.Ala781Val
XM_011514661.2:c.2342C>T	XP_011512963.1:p.Ala781Val
XR_001743466.2:n.3388C>T
NM_000287.4:c.2426C>T MANE Select	NP_000278.3:p.Ala809Val
NM_001316313.2:c.2162C>T	NP_001303242.1:p.Ala721Val
NR_133009.2:n.2210C>T