Canonical Allele Identifier: CA364162977

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978496G>A , CM000668.2:g.42978496G>A	GRCh38
NC_000006.11:g.42946234G>A , CM000668.1:g.42946234G>A	GRCh37
NC_000006.10:g.43054212G>A	NCBI36
NG_008370.1:g.5748C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.655C>T MANE Select	NP_000278.3:p.Gln219Ter
ENST00000304611.13:c.655C>T MANE Select	ENSP00000303511.8:p.Gln219Ter
NM_000287.3:c.655C>T	NP_000278.3:p.Gln219Ter
NM_001316313.1:c.618+37C>T	NP_001303242.1:n.618+37C>T
NM_001316313.2:c.618+37C>T	NP_001303242.1:n.618+37C>T
NR_133009.1:n.748C>T
NR_133009.2:n.686C>T
ENST00000244546.4:c.655C>T	ENSP00000244546.4:p.Gln219Ter
ENST00000304611.12:c.655C>T	ENSP00000303511.8:p.Gln219Ter
XM_011514661.1:c.655C>T	XP_011512963.1:p.Gln219Ter
XM_011514661.2:c.655C>T	XP_011512963.1:p.Gln219Ter
XR_001743466.2:n.1729C>T
XR_926246.1:n.748C>T