Canonical Allele Identifier: CA1500258092
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582563T= , CM000666.2:g.143582563T= GRCh38
NC_000004.11:g.144503716T= , CM000666.1:g.144503716T= GRCh37
NC_000004.10:g.144723166T= NCBI36
NG_052820.1:g.123113A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.6178+3281A= (FREM3) MANE Select ENSP00000332886.5:n.6178+3281A=
ENST00000511042.5:n.191+9982T= (GUSBP5)
NM_001168235.1:c.6178+3281A= (FREM3) NP_001161707.1:n.6178+3281A=
NM_001168235.2:c.6178+3281A= (FREM3) MANE Select NP_001161707.1:n.6178+3281A=
Search 100 bp 5'
Search 100 bp 3'