Canonical Allele Identifier: CA1713854475

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960928G= , CM000669.2:g.65960928G=	GRCh38
NC_000007.13:g.65425915G= , CM000669.1:g.65425915G=	GRCh37
NC_000007.12:g.65063350G=	NCBI36
NG_016197.1:g.26387C=
NG_051954.1:g.92830G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1925C= MANE Select	ENSP00000302728.4:p.Ser642=
ENST00000304895.8:c.1925C=	ENSP00000302728.4:p.Ser642=
ENST00000421103.5:c.1487C=	ENSP00000391390.1:p.Ser496=
ENST00000430730.5:c.*1192C=	ENSP00000411859.1:n.*1192C=
ENST00000447929.5:c.*1305C=	ENSP00000411262.1:n.*1305C=
ENST00000466883.5:n.2315C=
NM_000181.3:c.1925C=	NP_000172.2:p.Ser642=
NM_001284290.1:c.1487C=	NP_001271219.1:p.Ser496=
NM_001293104.1:c.1355C=	NP_001280033.1:p.Ser452=
NM_001293105.1:c.1268C=	NP_001280034.1:p.Ser423=
NR_120531.1:n.1971C=
XM_005250297.3:c.1772C=	XP_005250354.1:p.Ser591=
XM_011516113.1:c.1424C=	XP_011514415.1:p.Ser475=
XM_011516114.1:c.1253C=	XP_011514416.1:p.Ser418=
XM_005250297.4:c.1772C=	XP_005250354.1:p.Ser591=
XM_011516114.2:c.1253C=	XP_011514416.1:p.Ser418=
XM_017012091.1:c.1271C=	XP_016867580.1:p.Ser424=
XM_017012092.1:c.1202C=	XP_016867581.1:p.Ser401=
XM_017012093.2:c.1100C=	XP_016867582.1:p.Ser367=
XR_001744658.2:n.1732C=
XR_001744659.2:n.1845C=
XR_001744660.2:n.1777C=
XR_001744661.2:n.1692C=
XR_927461.3:n.1930C=
NM_000181.4:c.1925C= MANE Select	NP_000172.2:p.Ser642=
NM_001284290.2:c.1487C=	NP_001271219.1:p.Ser496=
NM_001293104.2:c.1355C=	NP_001280033.1:p.Ser452=
NM_001293105.2:c.1268C=	NP_001280034.1:p.Ser423=
NR_120531.2:n.1870C=