Canonical Allele Identifier: CA365855879
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826393G>T , CM000668.2:g.136826393G>T GRCh38
NC_000006.11:g.137147531G>T , CM000668.1:g.137147531G>T GRCh37
NC_000006.10:g.137189224G>T NCBI36
NG_008462.1:g.8814G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.263G>T MANE Select ENSP00000315680.3:p.Gly88Val
ENST00000541292.6:c.263G>T ENSP00000441004.1:p.Gly88Val
ENST00000678002.1:c.138G>T
ENST00000678557.1:c.149G>T ENSP00000502962.1:p.Gly50Val
ENST00000678593.1:c.268G>T ENSP00000503841.1:n.268G>T
ENST00000679286.1:c.143G>T ENSP00000503168.1:p.Gly48Val
ENST00000318471.4:c.263G>T ENSP00000315680.3:p.Gly88Val
ENST00000367756.8:c.263G>T ENSP00000356730.4:p.Gly88Val
ENST00000541292.5:c.263G>T ENSP00000441004.1:p.Gly88Val
NM_000288.3:c.263G>T NP_000279.1:p.Gly88Val
XM_005267019.3:c.149G>T XP_005267076.1:p.Gly50Val
XM_006715502.1:c.263G>T XP_006715565.1:p.Gly88Val
XM_011535900.1:c.263G>T XP_011534202.1:p.Gly88Val
XM_005267019.4:c.149G>T XP_005267076.1:p.Gly50Val
XM_006715502.2:c.263G>T XP_006715565.1:p.Gly88Val
XM_017010934.2:c.263G>T XP_016866423.1:p.Gly88Val
NM_000288.4:c.263G>T MANE Select NP_000279.1:p.Gly88Val