Canonical Allele Identifier: CA1713854442

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960913T= , CM000669.2:g.65960913T=	GRCh38
NC_000007.13:g.65425900T= , CM000669.1:g.65425900T=	GRCh37
NC_000007.12:g.65063335T=	NCBI36
NG_016197.1:g.26402A=
NG_051954.1:g.92815T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1940A= MANE Select	ENSP00000302728.4:p.Asn647=
ENST00000304895.8:c.1940A=	ENSP00000302728.4:p.Asn647=
ENST00000421103.5:c.1502A=	ENSP00000391390.1:p.Asn501=
ENST00000430730.5:c.*1207A=	ENSP00000411859.1:n.*1207A=
ENST00000447929.5:c.*1320A=	ENSP00000411262.1:n.*1320A=
ENST00000466883.5:n.2330A=
NM_000181.3:c.1940A=	NP_000172.2:p.Asn647=
NM_001284290.1:c.1502A=	NP_001271219.1:p.Asn501=
NM_001293104.1:c.1370A=	NP_001280033.1:p.Asn457=
NM_001293105.1:c.1283A=	NP_001280034.1:p.Asn428=
NR_120531.1:n.1986A=
XM_005250297.3:c.1787A=	XP_005250354.1:p.Asn596=
XM_011516113.1:c.1439A=	XP_011514415.1:p.Asn480=
XM_011516114.1:c.1268A=	XP_011514416.1:p.Asn423=
XM_005250297.4:c.1787A=	XP_005250354.1:p.Asn596=
XM_011516114.2:c.1268A=	XP_011514416.1:p.Asn423=
XM_017012091.1:c.1286A=	XP_016867580.1:p.Asn429=
XM_017012092.1:c.1217A=	XP_016867581.1:p.Asn406=
XM_017012093.2:c.1115A=	XP_016867582.1:p.Asn372=
XR_001744658.2:n.1747A=
XR_001744659.2:n.1860A=
XR_001744660.2:n.1792A=
XR_001744661.2:n.1707A=
XR_927461.3:n.1945A=
NM_000181.4:c.1940A= MANE Select	NP_000172.2:p.Asn647=
NM_001284290.2:c.1502A=	NP_001271219.1:p.Asn501=
NM_001293104.2:c.1370A=	NP_001280033.1:p.Asn457=
NM_001293105.2:c.1283A=	NP_001280034.1:p.Asn428=
NR_120531.2:n.1885A=