Canonical Allele Identifier: CA1713854427

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960911T= , CM000669.2:g.65960911T=	GRCh38
NC_000007.13:g.65425898T= , CM000669.1:g.65425898T=	GRCh37
NC_000007.12:g.65063333T=	NCBI36
NG_016197.1:g.26404A=
NG_051954.1:g.92813T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1942A= MANE Select	ENSP00000302728.4:p.Ser648=
ENST00000304895.8:c.1942A=	ENSP00000302728.4:p.Ser648=
ENST00000421103.5:c.1504A=	ENSP00000391390.1:p.Ser502=
ENST00000430730.5:c.*1209A=	ENSP00000411859.1:n.*1209A=
ENST00000447929.5:c.*1322A=	ENSP00000411262.1:n.*1322A=
ENST00000466883.5:n.2332A=
NM_000181.3:c.1942A=	NP_000172.2:p.Ser648=
NM_001284290.1:c.1504A=	NP_001271219.1:p.Ser502=
NM_001293104.1:c.1372A=	NP_001280033.1:p.Ser458=
NM_001293105.1:c.1285A=	NP_001280034.1:p.Ser429=
NR_120531.1:n.1988A=
XM_005250297.3:c.1789A=	XP_005250354.1:p.Ser597=
XM_011516113.1:c.1441A=	XP_011514415.1:p.Ser481=
XM_011516114.1:c.1270A=	XP_011514416.1:p.Ser424=
XM_005250297.4:c.1789A=	XP_005250354.1:p.Ser597=
XM_011516114.2:c.1270A=	XP_011514416.1:p.Ser424=
XM_017012091.1:c.1288A=	XP_016867580.1:p.Ser430=
XM_017012092.1:c.1219A=	XP_016867581.1:p.Ser407=
XM_017012093.2:c.1117A=	XP_016867582.1:p.Ser373=
XR_001744658.2:n.1749A=
XR_001744659.2:n.1862A=
XR_001744660.2:n.1794A=
XR_001744661.2:n.1709A=
XR_927461.3:n.1947A=
NM_000181.4:c.1942A= MANE Select	NP_000172.2:p.Ser648=
NM_001284290.2:c.1504A=	NP_001271219.1:p.Ser502=
NM_001293104.2:c.1372A=	NP_001280033.1:p.Ser458=
NM_001293105.2:c.1285A=	NP_001280034.1:p.Ser429=
NR_120531.2:n.1887A=