Canonical Allele Identifier: CA112728125

Gene: FRG1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.189960833A>G , CM000666.2:g.189960833A>G	GRCh38
NC_000004.10:g.191118982A>G	NCBI36
NG_008142.1:g.25015A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004477.3:c.623A>G MANE Select	NP_004468.1:p.Asn208Ser
ENST00000226798.9:c.623A>G MANE Select	ENSP00000226798.4:p.Asn208Ser
NM_004477.2:c.623A>G	NP_004468.1:p.Asn208Ser
ENST00000226798.8:c.623A>G	ENSP00000226798.4:p.Asn208Ser
ENST00000507103.1:c.86A>G	ENSP00000462603.1:p.Asn29Ser
ENST00000514482.1:n.524-29A>G
ENST00000524583.5:c.239A>G	ENSP00000435067.1:p.Asn80Ser
ENST00000711580.1:c.*127A>G	ENSP00000518806.1:n.*127A>G
ENST00000711581.1:n.769A>G
XM_017007958.1:c.239A>G	XP_016863447.1:p.Asn80Ser
XR_002959721.1:n.4032A>G
XR_938715.1:n.713-29A>G