Canonical Allele Identifier: CA364159661

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42974928G>T , CM000668.2:g.42974928G>T	GRCh38
NC_000006.11:g.42942666G>T , CM000668.1:g.42942666G>T	GRCh37
NC_000006.10:g.43050644G>T	NCBI36
NG_008370.1:g.9316C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.993C>A MANE Select	NP_000278.3:p.Tyr331Ter
ENST00000304611.13:c.993C>A MANE Select	ENSP00000303511.8:p.Tyr331Ter
NM_000287.3:c.993C>A	NP_000278.3:p.Tyr331Ter
NM_001316313.1:c.729C>A	NP_001303242.1:p.Tyr243Ter
NM_001316313.2:c.729C>A	NP_001303242.1:p.Tyr243Ter
NR_133009.1:n.1086C>A
NR_133009.2:n.1024C>A
ENST00000244546.4:c.993C>A	ENSP00000244546.4:p.Tyr331Ter
ENST00000304611.12:c.993C>A	ENSP00000303511.8:p.Tyr331Ter
XM_011514661.1:c.993C>A	XP_011512963.1:p.Tyr331Ter
XM_011514661.2:c.993C>A	XP_011512963.1:p.Tyr331Ter
XR_001743466.2:n.2067C>A
XR_926246.1:n.1086C>A