Canonical Allele Identifier: CA365855852
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826381T>C , CM000668.2:g.136826381T>C GRCh38
NC_000006.11:g.137147519T>C , CM000668.1:g.137147519T>C GRCh37
NC_000006.10:g.137189212T>C NCBI36
NG_008462.1:g.8802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.251T>C MANE Select ENSP00000315680.3:p.Ile84Thr
ENST00000541292.6:c.251T>C ENSP00000441004.1:p.Ile84Thr
ENST00000678002.1:c.126T>C
ENST00000678557.1:c.137T>C ENSP00000502962.1:p.Ile46Thr
ENST00000678593.1:c.256T>C ENSP00000503841.1:n.256T>C
ENST00000679286.1:c.131T>C ENSP00000503168.1:p.Ile44Thr
ENST00000318471.4:c.251T>C ENSP00000315680.3:p.Ile84Thr
ENST00000367756.8:c.251T>C ENSP00000356730.4:p.Ile84Thr
ENST00000541292.5:c.251T>C ENSP00000441004.1:p.Ile84Thr
NM_000288.3:c.251T>C NP_000279.1:p.Ile84Thr
XM_005267019.3:c.137T>C XP_005267076.1:p.Ile46Thr
XM_006715502.1:c.251T>C XP_006715565.1:p.Ile84Thr
XM_011535900.1:c.251T>C XP_011534202.1:p.Ile84Thr
XM_005267019.4:c.137T>C XP_005267076.1:p.Ile46Thr
XM_006715502.2:c.251T>C XP_006715565.1:p.Ile84Thr
XM_017010934.2:c.251T>C XP_016866423.1:p.Ile84Thr
NM_000288.4:c.251T>C MANE Select NP_000279.1:p.Ile84Thr