Canonical Allele Identifier: CA3811506

Gene: PEX6

Linked Data

• ClinVar Variation Id: 356802
• ClinVar RCV Id: RCV000388669 ; RCV001480949 ; RCV003430925 ; RCV004549813
• dbSNP Id: rs151234121
• ExAC: 6:42942720 A / G
• gnomAD v2: 6-42942720-A-G
• gnomAD v3: 6-42974982-A-G
• gnomAD v4: 6-42974982-A-G
• MyVariant Identifiers: chr6:g.42942720A>G (hg19) ; chr6:g.42974982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42974982A>G , CM000668.2:g.42974982A>G	GRCh38
NC_000006.11:g.42942720A>G , CM000668.1:g.42942720A>G	GRCh37
NC_000006.10:g.43050698A>G	NCBI36
NG_008370.1:g.9262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.939T>C MANE Select	ENSP00000303511.8:p.Pro313=
ENST00000244546.4:c.939T>C	ENSP00000244546.4:p.Pro313=
ENST00000304611.12:c.939T>C	ENSP00000303511.8:p.Pro313=
NM_000287.3:c.939T>C	NP_000278.3:p.Pro313=
NM_001316313.1:c.675T>C	NP_001303242.1:p.Pro225=
NR_133009.1:n.1032T>C
XM_011514661.1:c.939T>C	XP_011512963.1:p.Pro313=
XR_926246.1:n.1032T>C
XM_011514661.2:c.939T>C	XP_011512963.1:p.Pro313=
XR_001743466.2:n.2013T>C
NM_000287.4:c.939T>C MANE Select	NP_000278.3:p.Pro313=
NM_001316313.2:c.675T>C	NP_001303242.1:p.Pro225=
NR_133009.2:n.970T>C