Canonical Allele Identifier: CA364170155

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42979150T>A , CM000668.2:g.42979150T>A	GRCh38
NC_000006.11:g.42946888T>A , CM000668.1:g.42946888T>A	GRCh37
NC_000006.10:g.43054866T>A	NCBI36
NG_008370.1:g.5094A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1A>T MANE Select	NP_000278.3:p.Met1Leu
ENST00000304611.13:c.1A>T MANE Select	ENSP00000303511.8:p.Met1Leu
NM_000287.3:c.1A>T	NP_000278.3:p.Met1Leu
NM_001316313.1:c.1A>T	NP_001303242.1:p.Met1Leu
NM_001316313.2:c.1A>T	NP_001303242.1:p.Met1Leu
NR_133009.1:n.94A>T
NR_133009.2:n.32A>T
ENST00000244546.4:c.1A>T	ENSP00000244546.4:p.Met1Leu
ENST00000304611.12:c.1A>T	ENSP00000303511.8:p.Met1Leu
XM_011514661.1:c.1A>T	XP_011512963.1:p.Met1Leu
XM_011514661.2:c.1A>T	XP_011512963.1:p.Met1Leu
XR_001743466.2:n.1075A>T
XR_926246.1:n.94A>T