Canonical Allele Identifier: CA16041013
Gene: PEX7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371166
ClinVar RCV Id: RCV000409658
dbSNP Id: rs1057517059

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826471T>C , CM000668.2:g.136826471T>C GRCh38
NC_000006.11:g.137147609T>C , CM000668.1:g.137147609T>C GRCh37
NC_000006.10:g.137189302T>C NCBI36
NG_008462.1:g.8892T>C

Transcript Alleles

HGVS Amino-acid change
NM_000288.3:c.339+2T>C VV NP_000279.1:p.=
XM_005267019.3:c.225+2T>C XP_005267076.1:p.=
XM_006715502.1:c.339+2T>C XP_006715565.1:p.=
XM_011535900.1:c.339+2T>C XP_011534202.1:p.=
XM_005267019.4:c.225+2T>C
XM_006715502.2:c.339+2T>C
XM_017010934.2:c.339+2T>C XP_016866423.1:p.=
ENST00000318471.4:c.339+2T>C ENSP00000315680.3:p.=
ENST00000367756.8:c.339+2T>C ENSP00000356730.4:p.=
ENST00000541292.5:c.339+2T>C ENSP00000441004.1:p.=