Canonical Allele Identifier: CA1500212340
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1738264814
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143587605C>A , CM000666.2:g.143587605C>A GRCh38
NC_000004.11:g.144508758C>A , CM000666.1:g.144508758C>A GRCh37
NC_000004.10:g.144728208C>A NCBI36
NG_052820.1:g.118071G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6029-1612G>T (FREM3) MANE Select ENSP00000332886.5:n.6029-1612G>T
ENST00000511042.5:n.191+15024C>A (GUSBP5)
NM_001168235.1:c.6029-1612G>T (FREM3) NP_001161707.1:n.6029-1612G>T
NM_001168235.2:c.6029-1612G>T (FREM3) MANE Select NP_001161707.1:n.6029-1612G>T
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Search 100 bp 3'