Canonical Allele Identifier: CA1713854773

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961022G= , CM000669.2:g.65961022G=	GRCh38
NC_000007.13:g.65426009G= , CM000669.1:g.65426009G=	GRCh37
NC_000007.12:g.65063444G=	NCBI36
NG_016197.1:g.26293C=
NG_051954.1:g.92924G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1831C= MANE Select	ENSP00000302728.4:p.Arg611=
ENST00000304895.8:c.1831C=	ENSP00000302728.4:p.Arg611=
ENST00000421103.5:c.1393C=	ENSP00000391390.1:p.Arg465=
ENST00000430730.5:c.*1098C=	ENSP00000411859.1:n.*1098C=
ENST00000447929.5:c.*1211C=	ENSP00000411262.1:n.*1211C=
ENST00000466883.5:n.2221C=
NM_000181.3:c.1831C=	NP_000172.2:p.Arg611=
NM_001284290.1:c.1393C=	NP_001271219.1:p.Arg465=
NM_001293104.1:c.1261C=	NP_001280033.1:p.Arg421=
NM_001293105.1:c.1174C=	NP_001280034.1:p.Arg392=
NR_120531.1:n.1877C=
XM_005250297.3:c.1678C=	XP_005250354.1:p.Arg560=
XM_011516113.1:c.1330C=	XP_011514415.1:p.Arg444=
XM_011516114.1:c.1159C=	XP_011514416.1:p.Arg387=
XM_005250297.4:c.1678C=	XP_005250354.1:p.Arg560=
XM_011516114.2:c.1159C=	XP_011514416.1:p.Arg387=
XM_017012091.1:c.1177C=	XP_016867580.1:p.Arg393=
XM_017012092.1:c.1108C=	XP_016867581.1:p.Arg370=
XM_017012093.2:c.1006C=	XP_016867582.1:p.Arg336=
XR_001744658.2:n.1638C=
XR_001744659.2:n.1751C=
XR_001744660.2:n.1683C=
XR_001744661.2:n.1598C=
XR_927461.3:n.1836C=
NM_000181.4:c.1831C= MANE Select	NP_000172.2:p.Arg611=
NM_001284290.2:c.1393C=	NP_001271219.1:p.Arg465=
NM_001293104.2:c.1261C=	NP_001280033.1:p.Arg421=
NM_001293105.2:c.1174C=	NP_001280034.1:p.Arg392=
NR_120531.2:n.1776C=