Canonical Allele Identifier: CA4017556
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 291202
dbSNP Id: rs374668045

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826479A>G , CM000668.2:g.136826479A>G GRCh38
NC_000006.11:g.137147617A>G , CM000668.1:g.137147617A>G GRCh37
NC_000006.10:g.137189310A>G NCBI36
NG_008462.1:g.8900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.339+10A>G MANE Select ENSP00000315680.3:n.339+10A>G
ENST00000541292.6:c.339+10A>G ENSP00000441004.1:n.339+10A>G
ENST00000678002.1:c.214+10A>G
ENST00000678557.1:c.225+10A>G ENSP00000502962.1:n.225+10A>G
ENST00000678593.1:c.344+10A>G ENSP00000503841.1:n.344+10A>G
ENST00000679286.1:c.219+10A>G ENSP00000503168.1:n.219+10A>G
ENST00000318471.4:c.339+10A>G ENSP00000315680.3:n.339+10A>G
ENST00000367756.8:c.339+10A>G ENSP00000356730.4:n.339+10A>G
ENST00000541292.5:c.339+10A>G ENSP00000441004.1:n.339+10A>G
NM_000288.3:c.339+10A>G NP_000279.1:n.339+10A>G
XM_005267019.3:c.225+10A>G XP_005267076.1:n.225+10A>G
XM_006715502.1:c.339+10A>G XP_006715565.1:n.339+10A>G
XM_011535900.1:c.339+10A>G XP_011534202.1:n.339+10A>G
XM_005267019.4:c.225+10A>G XP_005267076.1:n.225+10A>G
XM_006715502.2:c.339+10A>G XP_006715565.1:n.339+10A>G
XM_017010934.2:c.339+10A>G XP_016866423.1:n.339+10A>G
NM_000288.4:c.339+10A>G MANE Select NP_000279.1:n.339+10A>G