Canonical Allele Identifier: CA1500257989
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582494G= , CM000666.2:g.143582494G= GRCh38
NC_000004.11:g.144503647G= , CM000666.1:g.144503647G= GRCh37
NC_000004.10:g.144723097G= NCBI36
NG_052820.1:g.123182C=

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3350C= (FREM3) MANE Select ENSP00000332886.5:n.6178+3350C=
ENST00000511042.5:n.191+9913G= (GUSBP5)
NM_001168235.1:c.6178+3350C= (FREM3) NP_001161707.1:n.6178+3350C=
NM_001168235.2:c.6178+3350C= (FREM3) MANE Select NP_001161707.1:n.6178+3350C=
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