Canonical Allele Identifier: CA3811199

Gene: PEX6

Linked Data

• ClinVar Variation Id: 500382
• ClinVar RCV Id: RCV000596762 ; RCV001351936 ; RCV001835870 ; RCV004553324
• dbSNP Id: rs377041406
• ExAC: 6:42935103 C / T
• gnomAD v2: 6-42935103-C-T
• gnomAD v3: 6-42967365-C-T
• gnomAD v4: 6-42967365-C-T
• MyVariant Identifiers: chr6:g.42935103C>T (hg19) ; chr6:g.42967365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42967365C>T , CM000668.2:g.42967365C>T	GRCh38
NC_000006.11:g.42935103C>T , CM000668.1:g.42935103C>T	GRCh37
NC_000006.10:g.43043081C>T	NCBI36
NG_008370.1:g.16879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1884+3G>A MANE Select	ENSP00000303511.8:n.1884+3G>A
ENST00000244546.4:c.1884+3G>A	ENSP00000244546.4:n.1884+3G>A
ENST00000304611.12:c.1884+3G>A	ENSP00000303511.8:n.1884+3G>A
NM_000287.3:c.1884+3G>A	NP_000278.3:n.1884+3G>A
NM_001316313.1:c.1620+3G>A	NP_001303242.1:n.1620+3G>A
NR_133009.1:n.1977+3G>A
XM_011514661.1:c.1800+3G>A	XP_011512963.1:n.1800+3G>A
XR_926246.1:n.1865+3G>A
XM_011514661.2:c.1800+3G>A	XP_011512963.1:n.1800+3G>A
XR_001743466.2:n.2846+3G>A
NM_000287.4:c.1884+3G>A MANE Select	NP_000278.3:n.1884+3G>A
NM_001316313.2:c.1620+3G>A	NP_001303242.1:n.1620+3G>A
NR_133009.2:n.1915+3G>A