Canonical Allele Identifier: CA1713854684

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960996C= , CM000669.2:g.65960996C=	GRCh38
NC_000007.13:g.65425983C= , CM000669.1:g.65425983C=	GRCh37
NC_000007.12:g.65063418C=	NCBI36
NG_016197.1:g.26319G=
NG_051954.1:g.92898C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1857G= MANE Select	ENSP00000302728.4:p.Ala619=
ENST00000304895.8:c.1857G=	ENSP00000302728.4:p.Ala619=
ENST00000421103.5:c.1419G=	ENSP00000391390.1:p.Ala473=
ENST00000430730.5:c.*1124G=	ENSP00000411859.1:n.*1124G=
ENST00000447929.5:c.*1237G=	ENSP00000411262.1:n.*1237G=
ENST00000466883.5:n.2247G=
NM_000181.3:c.1857G=	NP_000172.2:p.Ala619=
NM_001284290.1:c.1419G=	NP_001271219.1:p.Ala473=
NM_001293104.1:c.1287G=	NP_001280033.1:p.Ala429=
NM_001293105.1:c.1200G=	NP_001280034.1:p.Ala400=
NR_120531.1:n.1903G=
XM_005250297.3:c.1704G=	XP_005250354.1:p.Ala568=
XM_011516113.1:c.1356G=	XP_011514415.1:p.Ala452=
XM_011516114.1:c.1185G=	XP_011514416.1:p.Ala395=
XM_005250297.4:c.1704G=	XP_005250354.1:p.Ala568=
XM_011516114.2:c.1185G=	XP_011514416.1:p.Ala395=
XM_017012091.1:c.1203G=	XP_016867580.1:p.Ala401=
XM_017012092.1:c.1134G=	XP_016867581.1:p.Ala378=
XM_017012093.2:c.1032G=	XP_016867582.1:p.Ala344=
XR_001744658.2:n.1664G=
XR_001744659.2:n.1777G=
XR_001744660.2:n.1709G=
XR_001744661.2:n.1624G=
XR_927461.3:n.1862G=
NM_000181.4:c.1857G= MANE Select	NP_000172.2:p.Ala619=
NM_001284290.2:c.1419G=	NP_001271219.1:p.Ala473=
NM_001293104.2:c.1287G=	NP_001280033.1:p.Ala429=
NM_001293105.2:c.1200G=	NP_001280034.1:p.Ala400=
NR_120531.2:n.1802G=