Canonical Allele Identifier: CA4017532
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 994433
dbSNP Id: rs560350898

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826364C>A , CM000668.2:g.136826364C>A GRCh38
NC_000006.11:g.137147502C>A , CM000668.1:g.137147502C>A GRCh37
NC_000006.10:g.137189195C>A NCBI36
NG_008462.1:g.8785C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.234C>A MANE Select ENSP00000315680.3:p.Asn78Lys
ENST00000541292.6:c.234C>A ENSP00000441004.1:p.Asn78Lys
ENST00000678002.1:c.109C>A
ENST00000678557.1:c.120C>A ENSP00000502962.1:p.Asn40Lys
ENST00000678593.1:c.239C>A ENSP00000503841.1:n.239C>A
ENST00000679286.1:c.114C>A ENSP00000503168.1:p.Asn38Lys
ENST00000318471.4:c.234C>A ENSP00000315680.3:p.Asn78Lys
ENST00000367756.8:c.234C>A ENSP00000356730.4:p.Asn78Lys
ENST00000541292.5:c.234C>A ENSP00000441004.1:p.Asn78Lys
NM_000288.3:c.234C>A NP_000279.1:p.Asn78Lys
XM_005267019.3:c.120C>A XP_005267076.1:p.Asn40Lys
XM_006715502.1:c.234C>A XP_006715565.1:p.Asn78Lys
XM_011535900.1:c.234C>A XP_011534202.1:p.Asn78Lys
XM_005267019.4:c.120C>A XP_005267076.1:p.Asn40Lys
XM_006715502.2:c.234C>A XP_006715565.1:p.Asn78Lys
XM_017010934.2:c.234C>A XP_016866423.1:p.Asn78Lys
NM_000288.4:c.234C>A MANE Select NP_000279.1:p.Asn78Lys