Canonical Allele Identifier: CA3811407

Gene: PEX6

Linked Data

• ClinVar Variation Id: 495794
• ClinVar RCV Id: RCV000588951 ; RCV001834834 ; RCV003471937
• dbSNP Id: rs763459576
• ExAC: 6:42937622 C / T
• gnomAD v2: 6-42937622-C-T
• gnomAD v3: 6-42969884-C-T
• gnomAD v4: 6-42969884-C-T
• MyVariant Identifiers: chr6:g.42937622C>T (hg19) ; chr6:g.42969884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969884C>T , CM000668.2:g.42969884C>T	GRCh38
NC_000006.11:g.42937622C>T , CM000668.1:g.42937622C>T	GRCh37
NC_000006.10:g.43045600C>T	NCBI36
NG_008370.1:g.14360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1233+1G>A MANE Select	ENSP00000303511.8:n.1233+1G>A
ENST00000244546.4:c.1233+1G>A	ENSP00000244546.4:n.1233+1G>A
ENST00000304611.12:c.1233+1G>A	ENSP00000303511.8:n.1233+1G>A
NM_000287.3:c.1233+1G>A	NP_000278.3:n.1233+1G>A
NM_001316313.1:c.969+1G>A	NP_001303242.1:n.969+1G>A
NR_133009.1:n.1326+1G>A
XM_011514661.1:c.1149+1G>A	XP_011512963.1:n.1149+1G>A
XR_926246.1:n.1326+1G>A
XM_011514661.2:c.1149+1G>A	XP_011512963.1:n.1149+1G>A
XR_001743466.2:n.2307+1G>A
NM_000287.4:c.1233+1G>A MANE Select	NP_000278.3:n.1233+1G>A
NM_001316313.2:c.969+1G>A	NP_001303242.1:n.969+1G>A
NR_133009.2:n.1264+1G>A