Canonical Allele Identifier: CA3811362
Gene: PEX6 HGNC NCBI

Linked Data

dbSNP Id: rs369661341
gnomAD v2: 6-42937422-G-T
gnomAD v4: 6-42969684-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969684G>T , CM000668.2:g.42969684G>T GRCh38
NC_000006.11:g.42937422G>T , CM000668.1:g.42937422G>T GRCh37
NC_000006.10:g.43045400G>T NCBI36
NG_008370.1:g.14560C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1351C>A MANE Select ENSP00000303511.8:p.Pro451Thr
ENST00000244546.4:c.1351C>A ENSP00000244546.4:p.Pro451Thr
ENST00000304611.12:c.1351C>A ENSP00000303511.8:p.Pro451Thr
NM_000287.3:c.1351C>A NP_000278.3:p.Pro451Thr
NM_001316313.1:c.1087C>A NP_001303242.1:p.Pro363Thr
NR_133009.1:n.1444C>A
XM_011514661.1:c.1267C>A XP_011512963.1:p.Pro423Thr
XR_926246.1:n.1444C>A
XM_011514661.2:c.1267C>A XP_011512963.1:p.Pro423Thr
XR_001743466.2:n.2425C>A
NM_000287.4:c.1351C>A MANE Select NP_000278.3:p.Pro451Thr
NM_001316313.2:c.1087C>A NP_001303242.1:p.Pro363Thr
NR_133009.2:n.1382C>A