Canonical Allele Identifier: CA3810866

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356792
• ClinVar RCV Id: RCV000279268 ; RCV000966458 ; RCV001276729
• dbSNP Id: rs145243129
• ExAC: 6:42932109 C / G
• gnomAD v2: 6-42932109-C-G
• gnomAD v3: 6-42964371-C-G
• gnomAD v4: 6-42964371-C-G
• MyVariant Identifiers: chr6:g.42932109C>G (hg19) ; chr6:g.42964371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964371C>G , CM000668.2:g.42964371C>G	GRCh38
NC_000006.11:g.42932109C>G , CM000668.1:g.42932109C>G	GRCh37
NC_000006.10:g.43040087C>G	NCBI36
NG_008370.1:g.19873G>C
NG_008396.1:g.8610C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2907G>C MANE Select	ENSP00000303511.8:p.Arg969=
ENST00000244546.4:c.2660G>C	ENSP00000244546.4:n.2660G>C
ENST00000304611.12:c.2907G>C	ENSP00000303511.8:p.Arg969=
NM_000287.3:c.2907G>C	NP_000278.3:p.Arg969=
NM_001316313.1:c.2643G>C	NP_001303242.1:p.Arg881=
NR_133009.1:n.2753G>C
XM_011514661.1:c.2823G>C	XP_011512963.1:p.Arg941=
XM_011514661.2:c.2823G>C	XP_011512963.1:p.Arg941=
XR_001743466.2:n.3869G>C
NM_000287.4:c.2907G>C MANE Select	NP_000278.3:p.Arg969=
NM_001316313.2:c.2643G>C	NP_001303242.1:p.Arg881=
NR_133009.2:n.2691G>C