Canonical Allele Identifier: CA4017730
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs765718159

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872147T>A , CM000668.2:g.136872147T>A GRCh38
NC_000006.11:g.137193285T>A , CM000668.1:g.137193285T>A GRCh37
NC_000006.10:g.137234978T>A NCBI36
NG_008462.1:g.54568T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-51T>A MANE Select ENSP00000315680.3:n.748-51T>A
ENST00000541292.6:c.*13-51T>A ENSP00000441004.1:n.*13-51T>A
ENST00000678002.1:c.436-51T>A
ENST00000678557.1:c.634-51T>A ENSP00000502962.1:n.634-51T>A
ENST00000678593.1:c.753-51T>A ENSP00000503841.1:n.753-51T>A
ENST00000679286.1:c.628-51T>A ENSP00000503168.1:n.628-51T>A
ENST00000318471.4:c.748-51T>A ENSP00000315680.3:n.748-51T>A
NM_000288.3:c.748-51T>A NP_000279.1:n.748-51T>A
XM_005267019.3:c.634-51T>A XP_005267076.1:n.634-51T>A
XM_006715502.1:c.454-51T>A XP_006715565.1:n.454-51T>A
XM_011535900.1:c.526+25966T>A XP_011534202.1:n.526+25966T>A
XM_005267019.4:c.634-51T>A XP_005267076.1:n.634-51T>A
XM_006715502.2:c.454-51T>A XP_006715565.1:n.454-51T>A
XM_017010934.2:c.526+25966T>A XP_016866423.1:n.526+25966T>A
NM_000288.4:c.748-51T>A MANE Select NP_000279.1:n.748-51T>A