Canonical Allele Identifier: CA1500258064
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582537G= , CM000666.2:g.143582537G= GRCh38
NC_000004.11:g.144503690G= , CM000666.1:g.144503690G= GRCh37
NC_000004.10:g.144723140G= NCBI36
NG_052820.1:g.123139C=

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3307C= (FREM3) MANE Select ENSP00000332886.5:n.6178+3307C=
ENST00000511042.5:n.191+9956G= (GUSBP5)
NM_001168235.1:c.6178+3307C= (FREM3) NP_001161707.1:n.6178+3307C=
NM_001168235.2:c.6178+3307C= (FREM3) MANE Select NP_001161707.1:n.6178+3307C=