Canonical Allele Identifier: CA2842618322

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969574G>A , CM000668.2:g.42969574G>A	GRCh38
NC_000006.11:g.42937312G>A , CM000668.1:g.42937312G>A	GRCh37
NC_000006.10:g.43045290G>A	NCBI36
NG_008370.1:g.14670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+94C>T MANE Select	ENSP00000303511.8:n.1367+94C>T
ENST00000244546.4:c.1367+94C>T	ENSP00000244546.4:n.1367+94C>T
ENST00000304611.12:c.1367+94C>T	ENSP00000303511.8:n.1367+94C>T
NM_000287.3:c.1367+94C>T	NP_000278.3:n.1367+94C>T
NM_001316313.1:c.1103+94C>T	NP_001303242.1:n.1103+94C>T
NR_133009.1:n.1460+94C>T
XM_011514661.1:c.1283+94C>T	XP_011512963.1:n.1283+94C>T
XR_926246.1:n.1460+94C>T
XM_011514661.2:c.1283+94C>T	XP_011512963.1:n.1283+94C>T
XR_001743466.2:n.2441+94C>T
NM_000287.4:c.1367+94C>T MANE Select	NP_000278.3:n.1367+94C>T
NM_001316313.2:c.1103+94C>T	NP_001303242.1:n.1103+94C>T
NR_133009.2:n.1398+94C>T