Canonical Allele Identifier: CA343128

Gene: PEX7

Linked Data

• ClinVar Variation Id: 38872
• ClinVar RCV Id: RCV000032118 ; RCV000656253 ; RCV003473247
• dbSNP Id: rs62653611
• gnomAD v3: 6-136898192-A-G
• gnomAD v4: 6-136898192-A-G
• MyVariant Identifiers: chr6:g.137219330A>G (hg19) ; chr6:g.136898192A>G (hg38)
• PubMed: PMID:20301447

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898192A>G , CM000668.2:g.136898192A>G	GRCh38
NC_000006.11:g.137219330A>G , CM000668.1:g.137219330A>G	GRCh37
NC_000006.10:g.137261023A>G	NCBI36
NG_008462.1:g.80613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.854A>G MANE Select	ENSP00000315680.3:p.His285Arg
ENST00000541292.6:c.*119A>G	ENSP00000441004.1:n.*119A>G
ENST00000678002.1:c.542A>G
ENST00000678557.1:c.740A>G	ENSP00000502962.1:p.His247Arg
ENST00000679286.1:c.734A>G	ENSP00000503168.1:p.His245Arg
ENST00000318471.4:c.854A>G	ENSP00000315680.3:p.His285Arg
NM_000288.3:c.854A>G	NP_000279.1:p.His285Arg
XM_005267019.3:c.740A>G	XP_005267076.1:p.His247Arg
XM_006715502.1:c.560A>G	XP_006715565.1:p.His187Arg
XM_011535900.1:c.577A>G	XP_011534202.1:p.Ile193Val
XM_005267019.4:c.740A>G	XP_005267076.1:p.His247Arg
XM_006715502.2:c.560A>G	XP_006715565.1:p.His187Arg
XM_017010934.2:c.577A>G	XP_016866423.1:p.Ile193Val
NM_000288.4:c.854A>G MANE Select	NP_000279.1:p.His285Arg