Canonical Allele Identifier: CA16041015
Gene: PEX7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371524
ClinVar RCV Id: RCV000411178
dbSNP Id: rs1057517339

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866625A>G , CM000668.2:g.136866625A>G GRCh38
NC_000006.11:g.137187763A>G , CM000668.1:g.137187763A>G GRCh37
NC_000006.10:g.137229456A>G NCBI36
NG_008462.1:g.49046A>G

Transcript Alleles

HGVS Amino-acid change
NM_000288.3:c.527-2A>G VV NP_000279.1:p.=
XM_005267019.3:c.413-2A>G XP_005267076.1:p.=
XM_006715502.1:c.340-3265A>G XP_006715565.1:p.=
XM_011535900.1:c.526+20444A>G XP_011534202.1:p.=
XM_005267019.4:c.413-2A>G
XM_006715502.2:c.340-3265A>G
XM_017010934.2:c.526+20444A>G XP_016866423.1:p.=
NM_000288.4:c.527-2A>G VV MANE Preferred
ENST00000318471.4:c.527-2A>G ENSP00000315680.3:p.=
ENST00000541292.5:c.527-2A>G ENSP00000441004.1:p.=