Canonical Allele Identifier: CA2678796776

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969556-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969556C>A , CM000668.2:g.42969556C>A	GRCh38
NC_000006.11:g.42937294C>A , CM000668.1:g.42937294C>A	GRCh37
NC_000006.10:g.43045272C>A	NCBI36
NG_008370.1:g.14688G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1367+112G>T MANE Select	ENSP00000303511.8:n.1367+112G>T
ENST00000244546.4:c.1367+112G>T	ENSP00000244546.4:n.1367+112G>T
ENST00000304611.12:c.1367+112G>T	ENSP00000303511.8:n.1367+112G>T
NM_000287.3:c.1367+112G>T	NP_000278.3:n.1367+112G>T
NM_001316313.1:c.1103+112G>T	NP_001303242.1:n.1103+112G>T
NR_133009.1:n.1460+112G>T
XM_011514661.1:c.1283+112G>T	XP_011512963.1:n.1283+112G>T
XR_926246.1:n.1460+112G>T
XM_011514661.2:c.1283+112G>T	XP_011512963.1:n.1283+112G>T
XR_001743466.2:n.2441+112G>T
NM_000287.4:c.1367+112G>T MANE Select	NP_000278.3:n.1367+112G>T
NM_001316313.2:c.1103+112G>T	NP_001303242.1:n.1103+112G>T
NR_133009.2:n.1398+112G>T