Canonical Allele Identifier: CA3811234

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356795
• ClinVar RCV Id: RCV000306069 ; RCV000598355 ; RCV001081040 ; RCV001262593 ; RCV002519497 ; RCV004549811
• dbSNP Id: rs140769712
• ExAC: 6:42935272 G / A
• gnomAD v2: 6-42935272-G-A
• gnomAD v3: 6-42967534-G-A
• gnomAD v4: 6-42967534-G-A
• MyVariant Identifiers: chr6:g.42935272G>A (hg19) ; chr6:g.42967534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42967534G>A , CM000668.2:g.42967534G>A	GRCh38
NC_000006.11:g.42935272G>A , CM000668.1:g.42935272G>A	GRCh37
NC_000006.10:g.43043250G>A	NCBI36
NG_008370.1:g.16710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1718C>T MANE Select	ENSP00000303511.8:p.Thr573Ile
ENST00000244546.4:c.1718C>T	ENSP00000244546.4:p.Thr573Ile
ENST00000304611.12:c.1718C>T	ENSP00000303511.8:p.Thr573Ile
NM_000287.3:c.1718C>T	NP_000278.3:p.Thr573Ile
NM_001316313.1:c.1454C>T	NP_001303242.1:p.Thr485Ile
NR_133009.1:n.1811C>T
XM_011514661.1:c.1634C>T	XP_011512963.1:p.Thr545Ile
XR_926246.1:n.1699C>T
XM_011514661.2:c.1634C>T	XP_011512963.1:p.Thr545Ile
XR_001743466.2:n.2680C>T
NM_000287.4:c.1718C>T MANE Select	NP_000278.3:p.Thr573Ile
NM_001316313.2:c.1454C>T	NP_001303242.1:p.Thr485Ile
NR_133009.2:n.1749C>T