Canonical Allele Identifier: CA1088348093

Gene: PEX6

Linked Data

• dbSNP Id: rs1769916510
• gnomAD v3: 6-42968243-C-A
• gnomAD v4: 6-42968243-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968243C>A , CM000668.2:g.42968243C>A	GRCh38
NC_000006.11:g.42935981C>A , CM000668.1:g.42935981C>A	GRCh37
NC_000006.10:g.43043959C>A	NCBI36
NG_008370.1:g.16001G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1688+47G>T MANE Select	ENSP00000303511.8:n.1688+47G>T
ENST00000244546.4:c.1688+47G>T	ENSP00000244546.4:n.1688+47G>T
ENST00000304611.12:c.1688+47G>T	ENSP00000303511.8:n.1688+47G>T
NM_000287.3:c.1688+47G>T	NP_000278.3:n.1688+47G>T
NM_001316313.1:c.1424+47G>T	NP_001303242.1:n.1424+47G>T
NR_133009.1:n.1781+47G>T
XM_011514661.1:c.1604+47G>T	XP_011512963.1:n.1604+47G>T
XR_926246.1:n.1669+47G>T
XM_011514661.2:c.1604+47G>T	XP_011512963.1:n.1604+47G>T
XR_001743466.2:n.2650+47G>T
NM_000287.4:c.1688+47G>T MANE Select	NP_000278.3:n.1688+47G>T
NM_001316313.2:c.1424+47G>T	NP_001303242.1:n.1424+47G>T
NR_133009.2:n.1719+47G>T