Canonical Allele Identifier: CA4017823
Gene: PEX7 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.136913564G>A
GRCh37 chr6:g.137234702G>A
gnomAD v2:
6:137234702 G / A
gnomAD v3:
6:136913564 G / A
gnomAD v4:
chr6-136913564-G-A
Joint Max Group AF 0.0028083 (NFE)
Genomes Max Group AF 0.00342084 (AMR)
Exomes Max Group AF 0.00282556 (NFE)
ClinVar Allele:
306304
ClinVar RCV:
RCV000340735
RCV000407255
ClinVar Variation:
355538
dbSNP:
41288965
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136913564G>A , CM000668.2:g.136913564G>A GRCh38
NC_000006.11:g.137234702G>A , CM000668.1:g.137234702G>A GRCh37
NC_000006.10:g.137276395G>A NCBI36
NG_008462.1:g.95985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.*38G>A MANE Select ENSP00000315680.3:n.*38G>A
ENST00000541292.6:c.*275G>A ENSP00000441004.1:n.*275G>A
ENST00000678002.1:c.698G>A
ENST00000678557.1:c.*38G>A ENSP00000502962.1:n.*38G>A
ENST00000679286.1:c.*38G>A ENSP00000503168.1:n.*38G>A
ENST00000318471.4:c.*38G>A ENSP00000315680.3:n.*38G>A
NM_000288.3:c.*38G>A NP_000279.1:n.*38G>A
XM_005267019.3:c.*38G>A XP_005267076.1:n.*38G>A
XM_006715502.1:c.*38G>A XP_006715565.1:n.*38G>A
XM_005267019.4:c.*38G>A XP_005267076.1:n.*38G>A
XM_006715502.2:c.*38G>A XP_006715565.1:n.*38G>A
XM_017010934.2:c.*133G>A XP_016866423.1:n.*133G>A
NM_000288.4:c.*38G>A MANE Select NP_000279.1:n.*38G>A
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