Canonical Allele Identifier: CA1713854184

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960821G= , CM000669.2:g.65960821G=	GRCh38
NC_000007.13:g.65425808G= , CM000669.1:g.65425808G=	GRCh37
NC_000007.12:g.65063243G=	NCBI36
NG_016197.1:g.26494C=
NG_051954.1:g.92723G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*76C= MANE Select	ENSP00000302728.4:n.*76C=
ENST00000304895.8:c.*76C=	ENSP00000302728.4:n.*76C=
ENST00000421103.5:c.*76C=	ENSP00000391390.1:n.*76C=
ENST00000430730.5:c.*1299C=	ENSP00000411859.1:n.*1299C=
ENST00000447929.5:c.*1412C=	ENSP00000411262.1:n.*1412C=
ENST00000466883.5:n.2422C=
NM_000181.3:c.*76C=	NP_000172.2:n.*76C=
NM_001284290.1:c.*76C=	NP_001271219.1:n.*76C=
NM_001293104.1:c.*76C=	NP_001280033.1:n.*76C=
NM_001293105.1:c.*76C=	NP_001280034.1:n.*76C=
NR_120531.1:n.2078C=
XM_005250297.3:c.*76C=	XP_005250354.1:n.*76C=
XM_011516113.1:c.*76C=	XP_011514415.1:n.*76C=
XM_011516114.1:c.*76C=	XP_011514416.1:n.*76C=
XM_005250297.4:c.*76C=	XP_005250354.1:n.*76C=
XM_011516114.2:c.*76C=	XP_011514416.1:n.*76C=
XM_017012091.1:c.*76C=	XP_016867580.1:n.*76C=
XM_017012092.1:c.*76C=	XP_016867581.1:n.*76C=
XM_017012093.2:c.*76C=	XP_016867582.1:n.*76C=
XR_001744658.2:n.1839C=
XR_001744659.2:n.1952C=
XR_001744660.2:n.1884C=
XR_001744661.2:n.1799C=
XR_927461.3:n.2037C=
NM_000181.4:c.*76C= MANE Select	NP_000172.2:n.*76C=
NM_001284290.2:c.*76C=	NP_001271219.1:n.*76C=
NM_001293104.2:c.*76C=	NP_001280033.1:n.*76C=
NM_001293105.2:c.*76C=	NP_001280034.1:n.*76C=
NR_120531.2:n.1977C=