Canonical Allele Identifier: CA364155585
Gene: PEX6 HGNC NCBI

Linked Data

gnomAD v3: 6-42969684-G-A
gnomAD v4: 6-42969684-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1351C>T MANE Select ENSP00000303511.8:p.Pro451Ser
ENST00000244546.4:c.1351C>T ENSP00000244546.4:p.Pro451Ser
ENST00000304611.12:c.1351C>T ENSP00000303511.8:p.Pro451Ser
NM_000287.3:c.1351C>T NP_000278.3:p.Pro451Ser
NM_001316313.1:c.1087C>T NP_001303242.1:p.Pro363Ser
NR_133009.1:n.1444C>T
XM_011514661.1:c.1267C>T XP_011512963.1:p.Pro423Ser
XR_926246.1:n.1444C>T
XM_011514661.2:c.1267C>T XP_011512963.1:p.Pro423Ser
XR_001743466.2:n.2425C>T
NM_000287.4:c.1351C>T MANE Select NP_000278.3:p.Pro451Ser
NM_001316313.2:c.1087C>T NP_001303242.1:p.Pro363Ser
NR_133009.2:n.1382C>T