Canonical Allele Identifier: CA365855831
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1040023155

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826371C>A , CM000668.2:g.136826371C>A GRCh38
NC_000006.11:g.137147509C>A , CM000668.1:g.137147509C>A GRCh37
NC_000006.10:g.137189202C>A NCBI36
NG_008462.1:g.8792C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.241C>A MANE Select ENSP00000315680.3:p.His81Asn
ENST00000541292.6:c.241C>A ENSP00000441004.1:p.His81Asn
ENST00000678002.1:c.116C>A
ENST00000678557.1:c.127C>A ENSP00000502962.1:p.His43Asn
ENST00000678593.1:c.246C>A ENSP00000503841.1:n.246C>A
ENST00000679286.1:c.121C>A ENSP00000503168.1:p.His41Asn
ENST00000318471.4:c.241C>A ENSP00000315680.3:p.His81Asn
ENST00000367756.8:c.241C>A ENSP00000356730.4:p.His81Asn
ENST00000541292.5:c.241C>A ENSP00000441004.1:p.His81Asn
NM_000288.3:c.241C>A NP_000279.1:p.His81Asn
XM_005267019.3:c.127C>A XP_005267076.1:p.His43Asn
XM_006715502.1:c.241C>A XP_006715565.1:p.His81Asn
XM_011535900.1:c.241C>A XP_011534202.1:p.His81Asn
XM_005267019.4:c.127C>A XP_005267076.1:p.His43Asn
XM_006715502.2:c.241C>A XP_006715565.1:p.His81Asn
XM_017010934.2:c.241C>A XP_016866423.1:p.His81Asn
NM_000288.4:c.241C>A MANE Select NP_000279.1:p.His81Asn