Canonical Allele Identifier: CA365855812
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826362A>T , CM000668.2:g.136826362A>T GRCh38
NC_000006.11:g.137147500A>T , CM000668.1:g.137147500A>T GRCh37
NC_000006.10:g.137189193A>T NCBI36
NG_008462.1:g.8783A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.232A>T MANE Select ENSP00000315680.3:p.Asn78Tyr
ENST00000541292.6:c.232A>T ENSP00000441004.1:p.Asn78Tyr
ENST00000678002.1:c.107A>T
ENST00000678557.1:c.118A>T ENSP00000502962.1:p.Asn40Tyr
ENST00000678593.1:c.237A>T ENSP00000503841.1:n.237A>T
ENST00000679286.1:c.112A>T ENSP00000503168.1:p.Asn38Tyr
ENST00000318471.4:c.232A>T ENSP00000315680.3:p.Asn78Tyr
ENST00000367756.8:c.232A>T ENSP00000356730.4:p.Asn78Tyr
ENST00000541292.5:c.232A>T ENSP00000441004.1:p.Asn78Tyr
NM_000288.3:c.232A>T NP_000279.1:p.Asn78Tyr
XM_005267019.3:c.118A>T XP_005267076.1:p.Asn40Tyr
XM_006715502.1:c.232A>T XP_006715565.1:p.Asn78Tyr
XM_011535900.1:c.232A>T XP_011534202.1:p.Asn78Tyr
XM_005267019.4:c.118A>T XP_005267076.1:p.Asn40Tyr
XM_006715502.2:c.232A>T XP_006715565.1:p.Asn78Tyr
XM_017010934.2:c.232A>T XP_016866423.1:p.Asn78Tyr
NM_000288.4:c.232A>T MANE Select NP_000279.1:p.Asn78Tyr