Canonical Allele Identifier: CA658796765

Gene: PEX6

Linked Data

• ClinVar Variation Id: 500110
• ClinVar RCV Id: RCV000598219 ; RCV001854053
• dbSNP Id: rs1554126803
• gnomAD v4: 6-42964939-G-T
• MyVariant Identifiers: chr6:g.42932677G>T (hg19) ; chr6:g.42964939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964939G>T , CM000668.2:g.42964939G>T	GRCh38
NC_000006.11:g.42932677G>T , CM000668.1:g.42932677G>T	GRCh37
NC_000006.10:g.43040655G>T	NCBI36
NG_008370.1:g.19305C>A
NG_008396.1:g.9178G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2667-10C>A MANE Select	ENSP00000303511.8:n.2667-10C>A
ENST00000244546.4:c.2420-10C>A	ENSP00000244546.4:n.2420-10C>A
ENST00000304611.12:c.2667-10C>A	ENSP00000303511.8:n.2667-10C>A
NM_000287.3:c.2667-10C>A	NP_000278.3:n.2667-10C>A
NM_001316313.1:c.2403-10C>A	NP_001303242.1:n.2403-10C>A
NR_133009.1:n.2513-10C>A
XM_011514661.1:c.2583-10C>A	XP_011512963.1:n.2583-10C>A
XM_011514661.2:c.2583-10C>A	XP_011512963.1:n.2583-10C>A
XR_001743466.2:n.3629-10C>A
NM_000287.4:c.2667-10C>A MANE Select	NP_000278.3:n.2667-10C>A
NM_001316313.2:c.2403-10C>A	NP_001303242.1:n.2403-10C>A
NR_133009.2:n.2451-10C>A