Canonical Allele Identifier: CA343128
Gene: PEX7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38872
dbSNP Id: rs62653611

User contributed link-outs

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
NM_000288.3:c.854A>G VV 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
XM_006715502.2:c.560A>G
XM_017010934.2:c.577A>G XP_016866423.1:p.Ile193Val
NM_000288.4:c.854A>G VV MANE Preferred
ENST00000318471.4:c.854A>G ENSP00000315680.3:p.His285Arg