Canonical Allele Identifier: CA364155531

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2677707
• ClinVar RCV Id: RCV003476841
• dbSNP Id: rs1769988075
• MyVariant Identifiers: chr6:g.42937405C>A (hg19) ; chr6:g.42969667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969667C>A , CM000668.2:g.42969667C>A	GRCh38
NC_000006.11:g.42937405C>A , CM000668.1:g.42937405C>A	GRCh37
NC_000006.10:g.43045383C>A	NCBI36
NG_008370.1:g.14577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+1G>T MANE Select	ENSP00000303511.8:n.1367+1G>T
ENST00000244546.4:c.1367+1G>T	ENSP00000244546.4:n.1367+1G>T
ENST00000304611.12:c.1367+1G>T	ENSP00000303511.8:n.1367+1G>T
NM_000287.3:c.1367+1G>T	NP_000278.3:n.1367+1G>T
NM_001316313.1:c.1103+1G>T	NP_001303242.1:n.1103+1G>T
NR_133009.1:n.1460+1G>T
XM_011514661.1:c.1283+1G>T	XP_011512963.1:n.1283+1G>T
XR_926246.1:n.1460+1G>T
XM_011514661.2:c.1283+1G>T	XP_011512963.1:n.1283+1G>T
XR_001743466.2:n.2441+1G>T
NM_000287.4:c.1367+1G>T MANE Select	NP_000278.3:n.1367+1G>T
NM_001316313.2:c.1103+1G>T	NP_001303242.1:n.1103+1G>T
NR_133009.2:n.1398+1G>T