Canonical Allele Identifier: CA1713854608

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960965C= , CM000669.2:g.65960965C=	GRCh38
NC_000007.13:g.65425952C= , CM000669.1:g.65425952C=	GRCh37
NC_000007.12:g.65063387C=	NCBI36
NG_016197.1:g.26350G=
NG_051954.1:g.92867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1888G= MANE Select	ENSP00000302728.4:p.Ala630=
ENST00000304895.8:c.1888G=	ENSP00000302728.4:p.Ala630=
ENST00000421103.5:c.1450G=	ENSP00000391390.1:p.Ala484=
ENST00000430730.5:c.*1155G=	ENSP00000411859.1:n.*1155G=
ENST00000447929.5:c.*1268G=	ENSP00000411262.1:n.*1268G=
ENST00000466883.5:n.2278G=
NM_000181.3:c.1888G=	NP_000172.2:p.Ala630=
NM_001284290.1:c.1450G=	NP_001271219.1:p.Ala484=
NM_001293104.1:c.1318G=	NP_001280033.1:p.Ala440=
NM_001293105.1:c.1231G=	NP_001280034.1:p.Ala411=
NR_120531.1:n.1934G=
XM_005250297.3:c.1735G=	XP_005250354.1:p.Ala579=
XM_011516113.1:c.1387G=	XP_011514415.1:p.Ala463=
XM_011516114.1:c.1216G=	XP_011514416.1:p.Ala406=
XM_005250297.4:c.1735G=	XP_005250354.1:p.Ala579=
XM_011516114.2:c.1216G=	XP_011514416.1:p.Ala406=
XM_017012091.1:c.1234G=	XP_016867580.1:p.Ala412=
XM_017012092.1:c.1165G=	XP_016867581.1:p.Ala389=
XM_017012093.2:c.1063G=	XP_016867582.1:p.Ala355=
XR_001744658.2:n.1695G=
XR_001744659.2:n.1808G=
XR_001744660.2:n.1740G=
XR_001744661.2:n.1655G=
XR_927461.3:n.1893G=
NM_000181.4:c.1888G= MANE Select	NP_000172.2:p.Ala630=
NM_001284290.2:c.1450G=	NP_001271219.1:p.Ala484=
NM_001293104.2:c.1318G=	NP_001280033.1:p.Ala440=
NM_001293105.2:c.1231G=	NP_001280034.1:p.Ala411=
NR_120531.2:n.1833G=