Canonical Allele Identifier: CA138222169

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965358G>A , CM000668.2:g.42965358G>A	GRCh38
NC_000006.11:g.42933096G>A , CM000668.1:g.42933096G>A	GRCh37
NC_000006.10:g.43041074G>A	NCBI36
NG_008370.1:g.18886C>T
NG_008396.1:g.9597G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2482C>T MANE Select	NP_000278.3:p.Gln828Ter
ENST00000304611.13:c.2482C>T MANE Select	ENSP00000303511.8:p.Gln828Ter
NM_000287.3:c.2482C>T	NP_000278.3:p.Gln828Ter
NM_001316313.1:c.2218C>T	NP_001303242.1:p.Gln740Ter
NM_001316313.2:c.2218C>T	NP_001303242.1:p.Gln740Ter
NR_133009.1:n.2328C>T
NR_133009.2:n.2266C>T
ENST00000244546.4:c.2235C>T	ENSP00000244546.4:n.2235C>T
ENST00000304611.12:c.2482C>T	ENSP00000303511.8:p.Gln828Ter
XM_011514661.1:c.2398C>T	XP_011512963.1:p.Gln800Ter
XM_011514661.2:c.2398C>T	XP_011512963.1:p.Gln800Ter
XR_001743466.2:n.3444C>T