Canonical Allele Identifier: CA1713854459

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960924T= , CM000669.2:g.65960924T=	GRCh38
NC_000007.13:g.65425911T= , CM000669.1:g.65425911T=	GRCh37
NC_000007.12:g.65063346T=	NCBI36
NG_016197.1:g.26391A=
NG_051954.1:g.92826T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1929A= MANE Select	ENSP00000302728.4:p.Gln643=
ENST00000304895.8:c.1929A=	ENSP00000302728.4:p.Gln643=
ENST00000421103.5:c.1491A=	ENSP00000391390.1:p.Gln497=
ENST00000430730.5:c.*1196A=	ENSP00000411859.1:n.*1196A=
ENST00000447929.5:c.*1309A=	ENSP00000411262.1:n.*1309A=
ENST00000466883.5:n.2319A=
NM_000181.3:c.1929A=	NP_000172.2:p.Gln643=
NM_001284290.1:c.1491A=	NP_001271219.1:p.Gln497=
NM_001293104.1:c.1359A=	NP_001280033.1:p.Gln453=
NM_001293105.1:c.1272A=	NP_001280034.1:p.Gln424=
NR_120531.1:n.1975A=
XM_005250297.3:c.1776A=	XP_005250354.1:p.Gln592=
XM_011516113.1:c.1428A=	XP_011514415.1:p.Gln476=
XM_011516114.1:c.1257A=	XP_011514416.1:p.Gln419=
XM_005250297.4:c.1776A=	XP_005250354.1:p.Gln592=
XM_011516114.2:c.1257A=	XP_011514416.1:p.Gln419=
XM_017012091.1:c.1275A=	XP_016867580.1:p.Gln425=
XM_017012092.1:c.1206A=	XP_016867581.1:p.Gln402=
XM_017012093.2:c.1104A=	XP_016867582.1:p.Gln368=
XR_001744658.2:n.1736A=
XR_001744659.2:n.1849A=
XR_001744660.2:n.1781A=
XR_001744661.2:n.1696A=
XR_927461.3:n.1934A=
NM_000181.4:c.1929A= MANE Select	NP_000172.2:p.Gln643=
NM_001284290.2:c.1491A=	NP_001271219.1:p.Gln497=
NM_001293104.2:c.1359A=	NP_001280033.1:p.Gln453=
NM_001293105.2:c.1272A=	NP_001280034.1:p.Gln424=
NR_120531.2:n.1874A=