Canonical Allele Identifier: CA1713854652

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960975G= , CM000669.2:g.65960975G=	GRCh38
NC_000007.13:g.65425962G= , CM000669.1:g.65425962G=	GRCh37
NC_000007.12:g.65063397G=	NCBI36
NG_016197.1:g.26340C=
NG_051954.1:g.92877G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1878C= MANE Select	ENSP00000302728.4:p.Tyr626=
ENST00000304895.8:c.1878C=	ENSP00000302728.4:p.Tyr626=
ENST00000421103.5:c.1440C=	ENSP00000391390.1:p.Tyr480=
ENST00000430730.5:c.*1145C=	ENSP00000411859.1:n.*1145C=
ENST00000447929.5:c.*1258C=	ENSP00000411262.1:n.*1258C=
ENST00000466883.5:n.2268C=
NM_000181.3:c.1878C=	NP_000172.2:p.Tyr626=
NM_001284290.1:c.1440C=	NP_001271219.1:p.Tyr480=
NM_001293104.1:c.1308C=	NP_001280033.1:p.Tyr436=
NM_001293105.1:c.1221C=	NP_001280034.1:p.Tyr407=
NR_120531.1:n.1924C=
XM_005250297.3:c.1725C=	XP_005250354.1:p.Tyr575=
XM_011516113.1:c.1377C=	XP_011514415.1:p.Tyr459=
XM_011516114.1:c.1206C=	XP_011514416.1:p.Tyr402=
XM_005250297.4:c.1725C=	XP_005250354.1:p.Tyr575=
XM_011516114.2:c.1206C=	XP_011514416.1:p.Tyr402=
XM_017012091.1:c.1224C=	XP_016867580.1:p.Tyr408=
XM_017012092.1:c.1155C=	XP_016867581.1:p.Tyr385=
XM_017012093.2:c.1053C=	XP_016867582.1:p.Tyr351=
XR_001744658.2:n.1685C=
XR_001744659.2:n.1798C=
XR_001744660.2:n.1730C=
XR_001744661.2:n.1645C=
XR_927461.3:n.1883C=
NM_000181.4:c.1878C= MANE Select	NP_000172.2:p.Tyr626=
NM_001284290.2:c.1440C=	NP_001271219.1:p.Tyr480=
NM_001293104.2:c.1308C=	NP_001280033.1:p.Tyr436=
NM_001293105.2:c.1221C=	NP_001280034.1:p.Tyr407=
NR_120531.2:n.1823C=