Canonical Allele Identifier: CA3810869

Gene: PEX6

Linked Data

• ClinVar Variation Id: 499342
• ClinVar RCV Id: RCV000598507 ; RCV002532463 ; RCV002532464
• dbSNP Id: rs374426032
• ExAC: 6:42932110 C / T
• gnomAD v2: 6-42932110-C-T
• gnomAD v3: 6-42964372-C-T
• gnomAD v4: 6-42964372-C-T
• COSMIC: COSM246547
• MyVariant Identifiers: chr6:g.42932110C>T (hg19) ; chr6:g.42964372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964372C>T , CM000668.2:g.42964372C>T	GRCh38
NC_000006.11:g.42932110C>T , CM000668.1:g.42932110C>T	GRCh37
NC_000006.10:g.43040088C>T	NCBI36
NG_008370.1:g.19872G>A
NG_008396.1:g.8611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2906G>A MANE Select	ENSP00000303511.8:p.Arg969Gln
ENST00000244546.4:c.2659G>A	ENSP00000244546.4:n.2659G>A
ENST00000304611.12:c.2906G>A	ENSP00000303511.8:p.Arg969Gln
NM_000287.3:c.2906G>A	NP_000278.3:p.Arg969Gln
NM_001316313.1:c.2642G>A	NP_001303242.1:p.Arg881Gln
NR_133009.1:n.2752G>A
XM_011514661.1:c.2822G>A	XP_011512963.1:p.Arg941Gln
XM_011514661.2:c.2822G>A	XP_011512963.1:p.Arg941Gln
XR_001743466.2:n.3868G>A
NM_000287.4:c.2906G>A MANE Select	NP_000278.3:p.Arg969Gln
NM_001316313.2:c.2642G>A	NP_001303242.1:p.Arg881Gln
NR_133009.2:n.2690G>A