Canonical Allele Identifier: CA365855926
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826416G>C , CM000668.2:g.136826416G>C GRCh38
NC_000006.11:g.137147554G>C , CM000668.1:g.137147554G>C GRCh37
NC_000006.10:g.137189247G>C NCBI36
NG_008462.1:g.8837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.286G>C MANE Select ENSP00000315680.3:p.Asp96His
ENST00000541292.6:c.286G>C ENSP00000441004.1:p.Asp96His
ENST00000678002.1:c.161G>C
ENST00000678557.1:c.172G>C ENSP00000502962.1:p.Asp58His
ENST00000678593.1:c.291G>C ENSP00000503841.1:n.291G>C
ENST00000679286.1:c.166G>C ENSP00000503168.1:p.Asp56His
ENST00000318471.4:c.286G>C ENSP00000315680.3:p.Asp96His
ENST00000367756.8:c.286G>C ENSP00000356730.4:p.Asp96His
ENST00000541292.5:c.286G>C ENSP00000441004.1:p.Asp96His
NM_000288.3:c.286G>C NP_000279.1:p.Asp96His
XM_005267019.3:c.172G>C XP_005267076.1:p.Asp58His
XM_006715502.1:c.286G>C XP_006715565.1:p.Asp96His
XM_011535900.1:c.286G>C XP_011534202.1:p.Asp96His
XM_005267019.4:c.172G>C XP_005267076.1:p.Asp58His
XM_006715502.2:c.286G>C XP_006715565.1:p.Asp96His
XM_017010934.2:c.286G>C XP_016866423.1:p.Asp96His
NM_000288.4:c.286G>C MANE Select NP_000279.1:p.Asp96His