Canonical Allele Identifier: CA112728060

Gene: FRG1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.189960785A>G , CM000666.2:g.189960785A>G	GRCh38
NC_000004.10:g.191118934A>G	NCBI36
NG_008142.1:g.24967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711580.1:c.*79A>G	ENSP00000518806.1:n.*79A>G
ENST00000711581.1:n.721A>G
ENST00000226798.9:c.575A>G MANE Select	ENSP00000226798.4:p.Asp192Gly
ENST00000226798.8:c.575A>G	ENSP00000226798.4:p.Asp192Gly
ENST00000507103.1:c.38A>G	ENSP00000462603.1:p.Asp13Gly
ENST00000514482.1:n.524-77A>G
ENST00000524583.5:c.191A>G	ENSP00000435067.1:p.Asp64Gly
NM_004477.2:c.575A>G	NP_004468.1:p.Asp192Gly
XR_938715.1:n.713-77A>G
XM_017007958.1:c.191A>G	XP_016863447.1:p.Asp64Gly
XR_002959721.1:n.3984A>G
NM_004477.3:c.575A>G MANE Select	NP_004468.1:p.Asp192Gly