Canonical Allele Identifier: CA10623037
Gene: PEX7 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.136822806G>T
GRCh37 chr6:g.137143944G>T
gnomAD v3:
6:136822806 G / T
gnomAD v4:
chr6-136822806-G-T
Joint Max Group AF 0.00000494 (NFE)
Genomes Max Group AF 0.00000491 (NFE)
Exomes Max Group AF 0.0000036 (NFE)
ClinVar Allele:
301589
ClinVar RCV:
RCV000279742
RCV000378803
ClinVar Variation:
355527
dbSNP:
886061119
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822806G>T , CM000668.2:g.136822806G>T GRCh38
NC_000006.11:g.137143944G>T , CM000668.1:g.137143944G>T GRCh37
NC_000006.10:g.137185637G>T NCBI36
NG_008462.1:g.5227G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.130+11G>T MANE Select ENSP00000315680.3:n.130+11G>T
ENST00000541292.6:c.130+11G>T ENSP00000441004.1:n.130+11G>T
ENST00000678593.1:c.130+11G>T ENSP00000503841.1:n.130+11G>T
ENST00000318471.4:c.130+11G>T ENSP00000315680.3:n.130+11G>T
ENST00000367756.8:c.130+11G>T ENSP00000356730.4:n.130+11G>T
ENST00000541292.5:c.130+11G>T ENSP00000441004.1:n.130+11G>T
NM_000288.3:c.130+11G>T NP_000279.1:n.130+11G>T
XM_006715502.1:c.130+11G>T XP_006715565.1:n.130+11G>T
XM_011535900.1:c.130+11G>T XP_011534202.1:n.130+11G>T
XM_006715502.2:c.130+11G>T XP_006715565.1:n.130+11G>T
XM_017010934.2:c.130+11G>T XP_016866423.1:n.130+11G>T
NM_000288.4:c.130+11G>T MANE Select NP_000279.1:n.130+11G>T
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