Canonical Allele Identifier: CA1500258039
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Linked Data

dbSNP Id: rs1738166831
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582532C>T , CM000666.2:g.143582532C>T GRCh38
NC_000004.11:g.144503685C>T , CM000666.1:g.144503685C>T GRCh37
NC_000004.10:g.144723135C>T NCBI36
NG_052820.1:g.123144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6178+3312G>A (FREM3) MANE Select ENSP00000332886.5:n.6178+3312G>A
ENST00000511042.5:n.191+9951C>T (GUSBP5)
NM_001168235.1:c.6178+3312G>A (FREM3) NP_001161707.1:n.6178+3312G>A
NM_001168235.2:c.6178+3312G>A (FREM3) MANE Select NP_001161707.1:n.6178+3312G>A
Search 100 bp 5'
Search 100 bp 3'