Canonical Allele Identifier: CA365766537
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898148G>C , CM000668.2:g.136898148G>C GRCh38
NC_000006.11:g.137219286G>C , CM000668.1:g.137219286G>C GRCh37
NC_000006.10:g.137260979G>C NCBI36
NG_008462.1:g.80569G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.810G>C MANE Select ENSP00000315680.3:p.Trp270Cys
ENST00000541292.6:c.*75G>C ENSP00000441004.1:n.*75G>C
ENST00000678002.1:c.498G>C
ENST00000678557.1:c.696G>C ENSP00000502962.1:p.Trp232Cys
ENST00000679286.1:c.690G>C ENSP00000503168.1:p.Trp230Cys
ENST00000318471.4:c.810G>C ENSP00000315680.3:p.Trp270Cys
NM_000288.3:c.810G>C NP_000279.1:p.Trp270Cys
XM_005267019.3:c.696G>C XP_005267076.1:p.Trp232Cys
XM_006715502.1:c.516G>C XP_006715565.1:p.Trp172Cys
XM_011535900.1:c.533G>C XP_011534202.1:p.Gly178Ala
XM_005267019.4:c.696G>C XP_005267076.1:p.Trp232Cys
XM_006715502.2:c.516G>C XP_006715565.1:p.Trp172Cys
XM_017010934.2:c.533G>C XP_016866423.1:p.Gly178Ala
NM_000288.4:c.810G>C MANE Select NP_000279.1:p.Trp270Cys