Canonical Allele Identifier: CA1713890435

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65982040G= , CM000669.2:g.65982040G=	GRCh38
NC_000007.13:g.65447027G= , CM000669.1:g.65447027G=	GRCh37
NC_000007.12:g.65084462G=	NCBI36
NG_016197.1:g.5275C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.144C= MANE Select	ENSP00000302728.4:p.Arg48=
ENST00000304895.8:c.144C=	ENSP00000302728.4:p.Arg48=
ENST00000421103.5:c.144C=	ENSP00000391390.1:p.Arg48=
ENST00000430730.5:c.144C=	ENSP00000411859.1:p.Arg48=
ENST00000446111.1:c.144C=	ENSP00000416793.1:p.Arg48=
ENST00000447929.5:c.144C=	ENSP00000411262.1:p.Arg48=
ENST00000475316.5:n.49C=
NM_000181.3:c.144C=	NP_000172.2:p.Arg48=
NM_001284290.1:c.144C=	NP_001271219.1:p.Arg48=
NM_001293104.1:c.-242C=	NP_001280033.1:n.-242C=
NM_001293105.1:c.-186C=	NP_001280034.1:n.-186C=
NR_120531.1:n.275C=
XM_005250297.3:c.144C=	XP_005250354.1:p.Arg48=
XM_011516113.1:c.-186C=	XP_011514415.1:n.-186C=
XR_927461.1:n.270C=
XM_005250297.4:c.144C=	XP_005250354.1:p.Arg48=
XM_011516114.2:c.-542C=	XP_011514416.1:n.-542C=
XM_017012091.1:c.-186C=	XP_016867580.1:n.-186C=
XM_017012092.1:c.-242C=	XP_016867581.1:n.-242C=
XM_017012093.2:c.-542C=	XP_016867582.1:n.-542C=
XR_001744658.2:n.189C=
XR_001744659.2:n.189C=
XR_001744660.2:n.189C=
XR_001744661.2:n.189C=
XR_927461.3:n.189C=
NM_000181.4:c.144C= MANE Select	NP_000172.2:p.Arg48=
NM_001284290.2:c.144C=	NP_001271219.1:p.Arg48=
NM_001293104.2:c.-242C=	NP_001280033.1:n.-242C=
NM_001293105.2:c.-186C=	NP_001280034.1:n.-186C=
NR_120531.2:n.174C=