Canonical Allele Identifier: CA2678796812

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969645-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969645C>G , CM000668.2:g.42969645C>G	GRCh38
NC_000006.11:g.42937383C>G , CM000668.1:g.42937383C>G	GRCh37
NC_000006.10:g.43045361C>G	NCBI36
NG_008370.1:g.14599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+23G>C MANE Select	ENSP00000303511.8:n.1367+23G>C
ENST00000244546.4:c.1367+23G>C	ENSP00000244546.4:n.1367+23G>C
ENST00000304611.12:c.1367+23G>C	ENSP00000303511.8:n.1367+23G>C
NM_000287.3:c.1367+23G>C	NP_000278.3:n.1367+23G>C
NM_001316313.1:c.1103+23G>C	NP_001303242.1:n.1103+23G>C
NR_133009.1:n.1460+23G>C
XM_011514661.1:c.1283+23G>C	XP_011512963.1:n.1283+23G>C
XR_926246.1:n.1460+23G>C
XM_011514661.2:c.1283+23G>C	XP_011512963.1:n.1283+23G>C
XR_001743466.2:n.2441+23G>C
NM_000287.4:c.1367+23G>C MANE Select	NP_000278.3:n.1367+23G>C
NM_001316313.2:c.1103+23G>C	NP_001303242.1:n.1103+23G>C
NR_133009.2:n.1398+23G>C