Canonical Allele Identifier: CA1713854737

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961015C= , CM000669.2:g.65961015C=	GRCh38
NC_000007.13:g.65426002C= , CM000669.1:g.65426002C=	GRCh37
NC_000007.12:g.65063437C=	NCBI36
NG_016197.1:g.26300G=
NG_051954.1:g.92917C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1838G= MANE Select	ENSP00000302728.4:p.Arg613=
ENST00000304895.8:c.1838G=	ENSP00000302728.4:p.Arg613=
ENST00000421103.5:c.1400G=	ENSP00000391390.1:p.Arg467=
ENST00000430730.5:c.*1105G=	ENSP00000411859.1:n.*1105G=
ENST00000447929.5:c.*1218G=	ENSP00000411262.1:n.*1218G=
ENST00000466883.5:n.2228G=
NM_000181.3:c.1838G=	NP_000172.2:p.Arg613=
NM_001284290.1:c.1400G=	NP_001271219.1:p.Arg467=
NM_001293104.1:c.1268G=	NP_001280033.1:p.Arg423=
NM_001293105.1:c.1181G=	NP_001280034.1:p.Arg394=
NR_120531.1:n.1884G=
XM_005250297.3:c.1685G=	XP_005250354.1:p.Arg562=
XM_011516113.1:c.1337G=	XP_011514415.1:p.Arg446=
XM_011516114.1:c.1166G=	XP_011514416.1:p.Arg389=
XM_005250297.4:c.1685G=	XP_005250354.1:p.Arg562=
XM_011516114.2:c.1166G=	XP_011514416.1:p.Arg389=
XM_017012091.1:c.1184G=	XP_016867580.1:p.Arg395=
XM_017012092.1:c.1115G=	XP_016867581.1:p.Arg372=
XM_017012093.2:c.1013G=	XP_016867582.1:p.Arg338=
XR_001744658.2:n.1645G=
XR_001744659.2:n.1758G=
XR_001744660.2:n.1690G=
XR_001744661.2:n.1605G=
XR_927461.3:n.1843G=
NM_000181.4:c.1838G= MANE Select	NP_000172.2:p.Arg613=
NM_001284290.2:c.1400G=	NP_001271219.1:p.Arg467=
NM_001293104.2:c.1268G=	NP_001280033.1:p.Arg423=
NM_001293105.2:c.1181G=	NP_001280034.1:p.Arg394=
NR_120531.2:n.1783G=