Canonical Allele Identifier: CA365766670
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1486868571

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898189A>G , CM000668.2:g.136898189A>G GRCh38
NC_000006.11:g.137219327A>G , CM000668.1:g.137219327A>G GRCh37
NC_000006.10:g.137261020A>G NCBI36
NG_008462.1:g.80610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.851A>G MANE Select ENSP00000315680.3:p.His284Arg
ENST00000541292.6:c.*116A>G ENSP00000441004.1:n.*116A>G
ENST00000678002.1:c.539A>G
ENST00000678557.1:c.737A>G ENSP00000502962.1:p.His246Arg
ENST00000679286.1:c.731A>G ENSP00000503168.1:p.His244Arg
ENST00000318471.4:c.851A>G ENSP00000315680.3:p.His284Arg
NM_000288.3:c.851A>G NP_000279.1:p.His284Arg
XM_005267019.3:c.737A>G XP_005267076.1:p.His246Arg
XM_006715502.1:c.557A>G XP_006715565.1:p.His186Arg
XM_011535900.1:c.574A>G XP_011534202.1:p.Ile192Val
XM_005267019.4:c.737A>G XP_005267076.1:p.His246Arg
XM_006715502.2:c.557A>G XP_006715565.1:p.His186Arg
XM_017010934.2:c.574A>G XP_016866423.1:p.Ile192Val
NM_000288.4:c.851A>G MANE Select NP_000279.1:p.His284Arg