Canonical Allele Identifier: CA2516295388

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969547-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969547G>T , CM000668.2:g.42969547G>T	GRCh38
NC_000006.11:g.42937285G>T , CM000668.1:g.42937285G>T	GRCh37
NC_000006.10:g.43045263G>T	NCBI36
NG_008370.1:g.14697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+121C>A MANE Select	ENSP00000303511.8:n.1367+121C>A
ENST00000244546.4:c.1367+121C>A	ENSP00000244546.4:n.1367+121C>A
ENST00000304611.12:c.1367+121C>A	ENSP00000303511.8:n.1367+121C>A
NM_000287.3:c.1367+121C>A	NP_000278.3:n.1367+121C>A
NM_001316313.1:c.1103+121C>A	NP_001303242.1:n.1103+121C>A
NR_133009.1:n.1460+121C>A
XM_011514661.1:c.1283+121C>A	XP_011512963.1:n.1283+121C>A
XR_926246.1:n.1460+121C>A
XM_011514661.2:c.1283+121C>A	XP_011512963.1:n.1283+121C>A
XR_001743466.2:n.2441+121C>A
NM_000287.4:c.1367+121C>A MANE Select	NP_000278.3:n.1367+121C>A
NM_001316313.2:c.1103+121C>A	NP_001303242.1:n.1103+121C>A
NR_133009.2:n.1398+121C>A