Canonical Allele Identifier: CA2497029463
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872298A= , CM000668.2:g.136872298A= GRCh38
NC_000006.11:g.137193436A= , CM000668.1:g.137193436A= GRCh37
NC_000006.10:g.137235129A= NCBI36
NG_008462.1:g.54719A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+45A= MANE Select ENSP00000315680.3:n.803+45A=
ENST00000541292.6:c.*68+45A= ENSP00000441004.1:n.*68+45A=
ENST00000678002.1:c.491+45A=
ENST00000678557.1:c.689+45A= ENSP00000502962.1:n.689+45A=
ENST00000678593.1:c.853A= ENSP00000503841.1:n.853A=
ENST00000679286.1:c.683+45A= ENSP00000503168.1:n.683+45A=
ENST00000318471.4:c.803+45A= ENSP00000315680.3:n.803+45A=
NM_000288.3:c.803+45A= NP_000279.1:n.803+45A=
XM_005267019.3:c.689+45A= XP_005267076.1:n.689+45A=
XM_006715502.1:c.509+45A= XP_006715565.1:n.509+45A=
XM_011535900.1:c.527-25844A= XP_011534202.1:n.527-25844A=
XM_005267019.4:c.689+45A= XP_005267076.1:n.689+45A=
XM_006715502.2:c.509+45A= XP_006715565.1:n.509+45A=
XM_017010934.2:c.527-25844A= XP_016866423.1:n.527-25844A=
NM_000288.4:c.803+45A= MANE Select NP_000279.1:n.803+45A=