Canonical Allele Identifier: CA364155599

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937425T>A (hg19) ; chr6:g.42969687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969687T>A , CM000668.2:g.42969687T>A	GRCh38
NC_000006.11:g.42937425T>A , CM000668.1:g.42937425T>A	GRCh37
NC_000006.10:g.43045403T>A	NCBI36
NG_008370.1:g.14557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1348A>T MANE Select	ENSP00000303511.8:p.Lys450Ter
ENST00000244546.4:c.1348A>T	ENSP00000244546.4:p.Lys450Ter
ENST00000304611.12:c.1348A>T	ENSP00000303511.8:p.Lys450Ter
NM_000287.3:c.1348A>T	NP_000278.3:p.Lys450Ter
NM_001316313.1:c.1084A>T	NP_001303242.1:p.Lys362Ter
NR_133009.1:n.1441A>T
XM_011514661.1:c.1264A>T	XP_011512963.1:p.Lys422Ter
XR_926246.1:n.1441A>T
XM_011514661.2:c.1264A>T	XP_011512963.1:p.Lys422Ter
XR_001743466.2:n.2422A>T
NM_000287.4:c.1348A>T MANE Select	NP_000278.3:p.Lys450Ter
NM_001316313.2:c.1084A>T	NP_001303242.1:p.Lys362Ter
NR_133009.2:n.1379A>T