Canonical Allele Identifier: CA1068983306
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1738266091
gnomAD v3: 4-143587675-C-A
gnomAD v4: 4-143587675-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143587675C>A , CM000666.2:g.143587675C>A GRCh38
NC_000004.11:g.144508828C>A , CM000666.1:g.144508828C>A GRCh37
NC_000004.10:g.144728278C>A NCBI36
NG_052820.1:g.118001G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6029-1682G>T (FREM3) MANE Select ENSP00000332886.5:n.6029-1682G>T
ENST00000511042.5:n.191+15094C>A (GUSBP5)
NM_001168235.1:c.6029-1682G>T (FREM3) NP_001161707.1:n.6029-1682G>T
NM_001168235.2:c.6029-1682G>T (FREM3) MANE Select NP_001161707.1:n.6029-1682G>T
Search 100 bp 5'
Search 100 bp 3'