Canonical Allele Identifier: CA3810929
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42964896G>A
GRCh37 chr6:g.42932634G>A
gnomAD v2:
6:42932634 G / A
gnomAD v3:
6:42964896 G / A
gnomAD v4:
chr6-42964896-G-A
Joint Max Group AF 0.00030287 (SAS)
Genomes Max Group AF 0.00040793 (SAS)
Exomes Max Group AF 0.00026967 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42964896G>A , CM000668.2:g.42964896G>A GRCh38
NC_000006.11:g.42932634G>A , CM000668.1:g.42932634G>A GRCh37
NC_000006.10:g.43040612G>A NCBI36
NG_008370.1:g.19348C>T
NG_008396.1:g.9135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.2700C>T MANE Select ENSP00000303511.8:p.Asn900=
ENST00000244546.4:c.2453C>T ENSP00000244546.4:n.2453C>T
ENST00000304611.12:c.2700C>T ENSP00000303511.8:p.Asn900=
NM_000287.3:c.2700C>T NP_000278.3:p.Asn900=
NM_001316313.1:c.2436C>T NP_001303242.1:p.Asn812=
NR_133009.1:n.2546C>T
XM_011514661.1:c.2616C>T XP_011512963.1:p.Asn872=
XM_011514661.2:c.2616C>T XP_011512963.1:p.Asn872=
XR_001743466.2:n.3662C>T
NM_000287.4:c.2700C>T MANE Select NP_000278.3:p.Asn900=
NM_001316313.2:c.2436C>T NP_001303242.1:p.Asn812=
NR_133009.2:n.2484C>T
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