Canonical Allele Identifier: CA1713864754

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967819G= , CM000669.2:g.65967819G=	GRCh38
NC_000007.13:g.65432806G= , CM000669.1:g.65432806G=	GRCh37
NC_000007.12:g.65070241G=	NCBI36
NG_016197.1:g.19496C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1565C= MANE Select	ENSP00000302728.4:p.Ala522=
ENST00000304895.8:c.1565C=	ENSP00000302728.4:p.Ala522=
ENST00000421103.5:c.1127C=	ENSP00000391390.1:p.Ala376=
ENST00000430730.5:c.*832C=	ENSP00000411859.1:n.*832C=
ENST00000447929.5:c.*945C=	ENSP00000411262.1:n.*945C=
ENST00000461622.1:n.90C=
ENST00000462371.1:n.603C=
ENST00000466883.5:n.1955C=
NM_000181.3:c.1565C=	NP_000172.2:p.Ala522=
NM_001284290.1:c.1127C=	NP_001271219.1:p.Ala376=
NM_001293104.1:c.995C=	NP_001280033.1:p.Ala332=
NM_001293105.1:c.908C=	NP_001280034.1:p.Ala303=
NR_120531.1:n.1611C=
XM_005250297.3:c.1412C=	XP_005250354.1:p.Ala471=
XM_011516113.1:c.1064C=	XP_011514415.1:p.Ala355=
XM_011516114.1:c.893C=	XP_011514416.1:p.Ala298=
XR_927461.1:n.1651C=
XM_005250297.4:c.1412C=	XP_005250354.1:p.Ala471=
XM_011516114.2:c.893C=	XP_011514416.1:p.Ala298=
XM_017012091.1:c.911C=	XP_016867580.1:p.Ala304=
XM_017012092.1:c.842C=	XP_016867581.1:p.Ala281=
XM_017012093.2:c.740C=	XP_016867582.1:p.Ala247=
XR_001744658.2:n.1372C=
XR_001744659.2:n.1485C=
XR_001744660.2:n.1417C=
XR_001744661.2:n.1332C=
XR_927461.3:n.1570C=
NM_000181.4:c.1565C= MANE Select	NP_000172.2:p.Ala522=
NM_001284290.2:c.1127C=	NP_001271219.1:p.Ala376=
NM_001293104.2:c.995C=	NP_001280033.1:p.Ala332=
NM_001293105.2:c.908C=	NP_001280034.1:p.Ala303=
NR_120531.2:n.1510C=