Canonical Allele Identifier: CA1713854831

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961047C= , CM000669.2:g.65961047C=	GRCh38
NC_000007.13:g.65426034C= , CM000669.1:g.65426034C=	GRCh37
NC_000007.12:g.65063469C=	NCBI36
NG_016197.1:g.26268G=
NG_051954.1:g.92949C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1806G= MANE Select	ENSP00000302728.4:p.Leu602=
ENST00000304895.8:c.1806G=	ENSP00000302728.4:p.Leu602=
ENST00000421103.5:c.1368G=	ENSP00000391390.1:p.Leu456=
ENST00000430730.5:c.*1073G=	ENSP00000411859.1:n.*1073G=
ENST00000447929.5:c.*1186G=	ENSP00000411262.1:n.*1186G=
ENST00000466883.5:n.2196G=
NM_000181.3:c.1806G=	NP_000172.2:p.Leu602=
NM_001284290.1:c.1368G=	NP_001271219.1:p.Leu456=
NM_001293104.1:c.1236G=	NP_001280033.1:p.Leu412=
NM_001293105.1:c.1149G=	NP_001280034.1:p.Leu383=
NR_120531.1:n.1852G=
XM_005250297.3:c.1653G=	XP_005250354.1:p.Leu551=
XM_011516113.1:c.1305G=	XP_011514415.1:p.Leu435=
XM_011516114.1:c.1134G=	XP_011514416.1:p.Leu378=
XM_005250297.4:c.1653G=	XP_005250354.1:p.Leu551=
XM_011516114.2:c.1134G=	XP_011514416.1:p.Leu378=
XM_017012091.1:c.1152G=	XP_016867580.1:p.Leu384=
XM_017012092.1:c.1083G=	XP_016867581.1:p.Leu361=
XM_017012093.2:c.981G=	XP_016867582.1:p.Leu327=
XR_001744658.2:n.1613G=
XR_001744659.2:n.1726G=
XR_001744660.2:n.1658G=
XR_001744661.2:n.1573G=
XR_927461.3:n.1811G=
NM_000181.4:c.1806G= MANE Select	NP_000172.2:p.Leu602=
NM_001284290.2:c.1368G=	NP_001271219.1:p.Leu456=
NM_001293104.2:c.1236G=	NP_001280033.1:p.Leu412=
NM_001293105.2:c.1149G=	NP_001280034.1:p.Leu383=
NR_120531.2:n.1751G=