Canonical Allele Identifier: CA2552033000

Gene: FREM3 GUSBP5

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.143582534A>G , CM000666.2:g.143582534A>G	GRCh38
NC_000004.11:g.144503687A>G , CM000666.1:g.144503687A>G	GRCh37
NC_000004.10:g.144723137A>G	NCBI36
NG_052820.1:g.123142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329798.5:c.6178+3310T>C (FREM3) MANE Select	ENSP00000332886.5:n.6178+3310T>C
ENST00000511042.5:n.191+9953A>G (GUSBP5)
NM_001168235.1:c.6178+3310T>C (FREM3)	NP_001161707.1:n.6178+3310T>C
NM_001168235.2:c.6178+3310T>C (FREM3) MANE Select	NP_001161707.1:n.6178+3310T>C