Canonical Allele Identifier: CA4017552
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461313
ClinVar RCV Id: RCV001953982
dbSNP Id: rs199648976

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826460C>G , CM000668.2:g.136826460C>G GRCh38
NC_000006.11:g.137147598C>G , CM000668.1:g.137147598C>G GRCh37
NC_000006.10:g.137189291C>G NCBI36
NG_008462.1:g.8881C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.330C>G MANE Select ENSP00000315680.3:p.His110Gln
ENST00000541292.6:c.330C>G ENSP00000441004.1:p.His110Gln
ENST00000678002.1:c.205C>G
ENST00000678557.1:c.216C>G ENSP00000502962.1:p.His72Gln
ENST00000678593.1:c.335C>G ENSP00000503841.1:n.335C>G
ENST00000679286.1:c.210C>G ENSP00000503168.1:p.His70Gln
ENST00000318471.4:c.330C>G ENSP00000315680.3:p.His110Gln
ENST00000367756.8:c.330C>G ENSP00000356730.4:p.His110Gln
ENST00000541292.5:c.330C>G ENSP00000441004.1:p.His110Gln
NM_000288.3:c.330C>G NP_000279.1:p.His110Gln
XM_005267019.3:c.216C>G XP_005267076.1:p.His72Gln
XM_006715502.1:c.330C>G XP_006715565.1:p.His110Gln
XM_011535900.1:c.330C>G XP_011534202.1:p.His110Gln
XM_005267019.4:c.216C>G XP_005267076.1:p.His72Gln
XM_006715502.2:c.330C>G XP_006715565.1:p.His110Gln
XM_017010934.2:c.330C>G XP_016866423.1:p.His110Gln
NM_000288.4:c.330C>G MANE Select NP_000279.1:p.His110Gln