Canonical Allele Identifier: CA1088348791

Gene: PEX6

Linked Data

• dbSNP Id: rs1769996018
• gnomAD v3: 6-42969820-A-G
• gnomAD v4: 6-42969820-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969820A>G , CM000668.2:g.42969820A>G	GRCh38
NC_000006.11:g.42937558A>G , CM000668.1:g.42937558A>G	GRCh37
NC_000006.10:g.43045536A>G	NCBI36
NG_008370.1:g.14424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-19T>C MANE Select	ENSP00000303511.8:n.1234-19T>C
ENST00000244546.4:c.1234-19T>C	ENSP00000244546.4:n.1234-19T>C
ENST00000304611.12:c.1234-19T>C	ENSP00000303511.8:n.1234-19T>C
NM_000287.3:c.1234-19T>C	NP_000278.3:n.1234-19T>C
NM_001316313.1:c.970-19T>C	NP_001303242.1:n.970-19T>C
NR_133009.1:n.1327-19T>C
XM_011514661.1:c.1150-19T>C	XP_011512963.1:n.1150-19T>C
XR_926246.1:n.1327-19T>C
XM_011514661.2:c.1150-19T>C	XP_011512963.1:n.1150-19T>C
XR_001743466.2:n.2308-19T>C
NM_000287.4:c.1234-19T>C MANE Select	NP_000278.3:n.1234-19T>C
NM_001316313.2:c.970-19T>C	NP_001303242.1:n.970-19T>C
NR_133009.2:n.1265-19T>C