Canonical Allele Identifier: CA364153944
Community Standard Title: NM_000287.4(PEX6):c.1689-1G>A
Gene: PEX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42967564C>T , CM000668.2:g.42967564C>T GRCh38
NC_000006.11:g.42935302C>T , CM000668.1:g.42935302C>T GRCh37
NC_000006.10:g.43043280C>T NCBI36
NG_008370.1:g.16680G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000287.4:c.1689-1G>A MANE Select NP_000278.3:n.1689-1G>A
ENST00000304611.13:c.1689-1G>A MANE Select ENSP00000303511.8:n.1689-1G>A
NM_000287.3:c.1689-1G>A NP_000278.3:n.1689-1G>A
NM_001316313.1:c.1425-1G>A NP_001303242.1:n.1425-1G>A
NM_001316313.2:c.1425-1G>A NP_001303242.1:n.1425-1G>A
NR_133009.1:n.1782-1G>A
NR_133009.2:n.1720-1G>A
ENST00000244546.4:c.1689-1G>A ENSP00000244546.4:n.1689-1G>A
ENST00000304611.12:c.1689-1G>A ENSP00000303511.8:n.1689-1G>A
XM_011514661.1:c.1605-1G>A XP_011512963.1:n.1605-1G>A
XM_011514661.2:c.1605-1G>A XP_011512963.1:n.1605-1G>A
XR_001743466.2:n.2651-1G>A
XR_926246.1:n.1670-1G>A