Canonical Allele Identifier: CA3811105

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966360G>A , CM000668.2:g.42966360G>A	GRCh38
NC_000006.11:g.42934098G>A , CM000668.1:g.42934098G>A	GRCh37
NC_000006.10:g.43042076G>A	NCBI36
NG_008370.1:g.17884C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2182C>T MANE Select	NP_000278.3:p.Pro728Ser
ENST00000304611.13:c.2182C>T MANE Select	ENSP00000303511.8:p.Pro728Ser
NM_000287.3:c.2182C>T	NP_000278.3:p.Pro728Ser
NM_001316313.1:c.1918C>T	NP_001303242.1:p.Pro640Ser
NM_001316313.2:c.1918C>T	NP_001303242.1:p.Pro640Ser
NR_133009.1:n.2208+144C>T
NR_133009.2:n.2146+144C>T
ENST00000244546.4:c.2115+144C>T	ENSP00000244546.4:n.2115+144C>T
ENST00000304611.12:c.2182C>T	ENSP00000303511.8:p.Pro728Ser
XM_011514661.1:c.2098C>T	XP_011512963.1:p.Pro700Ser
XM_011514661.2:c.2098C>T	XP_011512963.1:p.Pro700Ser
XR_001743466.2:n.3144C>T