Canonical Allele Identifier: CA112720041

Gene: FRG1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.189952225A>G , CM000666.2:g.189952225A>G	GRCh38
NC_000004.10:g.191110374A>G	NCBI36
NG_008142.1:g.16407A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004477.3:c.197A>G MANE Select	NP_004468.1:p.Lys66Arg
ENST00000226798.9:c.197A>G MANE Select	ENSP00000226798.4:p.Lys66Arg
NM_004477.2:c.197A>G	NP_004468.1:p.Lys66Arg
ENST00000226798.8:c.197A>G	ENSP00000226798.4:p.Lys66Arg
ENST00000514482.1:n.183A>G
ENST00000524583.5:c.-15A>G	ENSP00000435067.1:n.-15A>G
ENST00000531991.6:c.8A>G	ENSP00000435943.1:p.Lys3Arg
ENST00000533157.5:c.*240A>G	ENSP00000436535.1:n.*240A>G
ENST00000711580.1:c.197A>G	ENSP00000518806.1:p.Lys66Arg
ENST00000711581.1:n.266A>G
XM_017007958.1:c.-15A>G	XP_016863447.1:n.-15A>G
XR_002959721.1:n.361A>G
XR_938715.1:n.372A>G