Canonical Allele Identifier: CA119078
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 7790
dbSNP Id: rs61753233

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822705A>C , CM000668.2:g.136822705A>C GRCh38
NC_000006.11:g.137143843A>C , CM000668.1:g.137143843A>C GRCh37
NC_000006.10:g.137185536A>C NCBI36
NG_008462.1:g.5126A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.40A>C MANE Select ENSP00000315680.3:p.Thr14Pro
ENST00000541292.6:c.40A>C ENSP00000441004.1:p.Thr14Pro
ENST00000678593.1:c.40A>C ENSP00000503841.1:p.Thr14Pro
ENST00000318471.4:c.40A>C ENSP00000315680.3:p.Thr14Pro
ENST00000367756.8:c.40A>C ENSP00000356730.4:p.Thr14Pro
ENST00000541292.5:c.40A>C ENSP00000441004.1:p.Thr14Pro
NM_000288.3:c.40A>C NP_000279.1:p.Thr14Pro
XM_006715502.1:c.40A>C XP_006715565.1:p.Thr14Pro
XM_011535900.1:c.40A>C XP_011534202.1:p.Thr14Pro
XM_006715502.2:c.40A>C XP_006715565.1:p.Thr14Pro
XM_017010934.2:c.40A>C XP_016866423.1:p.Thr14Pro
NM_000288.4:c.40A>C MANE Select NP_000279.1:p.Thr14Pro