Canonical Allele Identifier: CA3810857

Gene: PEX6

Linked Data

• ClinVar Variation Id: 255741
• ClinVar RCV Id: RCV000253129 ; RCV000371611 ; RCV000514139 ; RCV001274738 ; RCV001083958
• dbSNP Id: rs115180949
• ExAC: 6:42932080 G / A
• gnomAD v2: 6-42932080-G-A
• gnomAD v3: 6-42964342-G-A
• gnomAD v4: 6-42964342-G-A
• MyVariant Identifiers: chr6:g.42932080G>A (hg19) ; chr6:g.42964342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964342G>A , CM000668.2:g.42964342G>A	GRCh38
NC_000006.11:g.42932080G>A , CM000668.1:g.42932080G>A	GRCh37
NC_000006.10:g.43040058G>A	NCBI36
NG_008370.1:g.19902C>T
NG_008396.1:g.8581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2936C>T MANE Select	ENSP00000303511.8:p.Ala979Val
ENST00000244546.4:c.2689C>T	ENSP00000244546.4:n.2689C>T
ENST00000304611.12:c.2936C>T	ENSP00000303511.8:p.Ala979Val
NM_000287.3:c.2936C>T	NP_000278.3:p.Ala979Val
NM_001316313.1:c.2672C>T	NP_001303242.1:p.Ala891Val
NR_133009.1:n.2782C>T
XM_011514661.1:c.2852C>T	XP_011512963.1:p.Ala951Val
XM_011514661.2:c.2852C>T	XP_011512963.1:p.Ala951Val
XR_001743466.2:n.3898C>T
NM_000287.4:c.2936C>T MANE Select	NP_000278.3:p.Ala979Val
NM_001316313.2:c.2672C>T	NP_001303242.1:p.Ala891Val
NR_133009.2:n.2720C>T