Canonical Allele Identifier: CA365856010
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826456A>G , CM000668.2:g.136826456A>G GRCh38
NC_000006.11:g.137147594A>G , CM000668.1:g.137147594A>G GRCh37
NC_000006.10:g.137189287A>G NCBI36
NG_008462.1:g.8877A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.326A>G MANE Select ENSP00000315680.3:p.Glu109Gly
ENST00000541292.6:c.326A>G ENSP00000441004.1:p.Glu109Gly
ENST00000678002.1:c.201A>G
ENST00000678557.1:c.212A>G ENSP00000502962.1:p.Glu71Gly
ENST00000678593.1:c.331A>G ENSP00000503841.1:n.331A>G
ENST00000679286.1:c.206A>G ENSP00000503168.1:p.Glu69Gly
ENST00000318471.4:c.326A>G ENSP00000315680.3:p.Glu109Gly
ENST00000367756.8:c.326A>G ENSP00000356730.4:p.Glu109Gly
ENST00000541292.5:c.326A>G ENSP00000441004.1:p.Glu109Gly
NM_000288.3:c.326A>G NP_000279.1:p.Glu109Gly
XM_005267019.3:c.212A>G XP_005267076.1:p.Glu71Gly
XM_006715502.1:c.326A>G XP_006715565.1:p.Glu109Gly
XM_011535900.1:c.326A>G XP_011534202.1:p.Glu109Gly
XM_005267019.4:c.212A>G XP_005267076.1:p.Glu71Gly
XM_006715502.2:c.326A>G XP_006715565.1:p.Glu109Gly
XM_017010934.2:c.326A>G XP_016866423.1:p.Glu109Gly
NM_000288.4:c.326A>G MANE Select NP_000279.1:p.Glu109Gly