Canonical Allele Identifier: CA3811493
Gene: PEX6 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.42974907G>A
GRCh37 chr6:g.42942645G>A
gnomAD v2:
6:42942645 G / A
gnomAD v3:
6:42974907 G / A
gnomAD v4:
chr6-42974907-G-A
Joint Max Group AF 0.000854 (AFR)
Genomes Max Group AF 0.00095877 (AFR)
Exomes Max Group AF 0.00056916 (AFR)
ClinVar RCV:
RCV000593253
RCV001088282
ClinVar Variation:
500942
dbSNP:
140806942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42974907G>A , CM000668.2:g.42974907G>A GRCh38
NC_000006.11:g.42942645G>A , CM000668.1:g.42942645G>A GRCh37
NC_000006.10:g.43050623G>A NCBI36
NG_008370.1:g.9337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1014C>T MANE Select ENSP00000303511.8:p.Asp338=
ENST00000244546.4:c.1014C>T ENSP00000244546.4:p.Asp338=
ENST00000304611.12:c.1014C>T ENSP00000303511.8:p.Asp338=
NM_000287.3:c.1014C>T NP_000278.3:p.Asp338=
NM_001316313.1:c.750C>T NP_001303242.1:p.Asp250=
NR_133009.1:n.1107C>T
XM_011514661.1:c.1014C>T XP_011512963.1:p.Asp338=
XR_926246.1:n.1107C>T
XM_011514661.2:c.1014C>T XP_011512963.1:p.Asp338=
XR_001743466.2:n.2088C>T
NM_000287.4:c.1014C>T MANE Select NP_000278.3:p.Asp338=
NM_001316313.2:c.750C>T NP_001303242.1:p.Asp250=
NR_133009.2:n.1045C>T
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