Canonical Allele Identifier: CA365855919
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826413T>G , CM000668.2:g.136826413T>G GRCh38
NC_000006.11:g.137147551T>G , CM000668.1:g.137147551T>G GRCh37
NC_000006.10:g.137189244T>G NCBI36
NG_008462.1:g.8834T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.283T>G MANE Select ENSP00000315680.3:p.Trp95Gly
ENST00000541292.6:c.283T>G ENSP00000441004.1:p.Trp95Gly
ENST00000678002.1:c.158T>G
ENST00000678557.1:c.169T>G ENSP00000502962.1:p.Trp57Gly
ENST00000678593.1:c.288T>G ENSP00000503841.1:n.288T>G
ENST00000679286.1:c.163T>G ENSP00000503168.1:p.Trp55Gly
ENST00000318471.4:c.283T>G ENSP00000315680.3:p.Trp95Gly
ENST00000367756.8:c.283T>G ENSP00000356730.4:p.Trp95Gly
ENST00000541292.5:c.283T>G ENSP00000441004.1:p.Trp95Gly
NM_000288.3:c.283T>G NP_000279.1:p.Trp95Gly
XM_005267019.3:c.169T>G XP_005267076.1:p.Trp57Gly
XM_006715502.1:c.283T>G XP_006715565.1:p.Trp95Gly
XM_011535900.1:c.283T>G XP_011534202.1:p.Trp95Gly
XM_005267019.4:c.169T>G XP_005267076.1:p.Trp57Gly
XM_006715502.2:c.283T>G XP_006715565.1:p.Trp95Gly
XM_017010934.2:c.283T>G XP_016866423.1:p.Trp95Gly
NM_000288.4:c.283T>G MANE Select NP_000279.1:p.Trp95Gly