Canonical Allele Identifier: CA1713854732

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961009G= , CM000669.2:g.65961009G=	GRCh38
NC_000007.13:g.65425996G= , CM000669.1:g.65425996G=	GRCh37
NC_000007.12:g.65063431G=	NCBI36
NG_016197.1:g.26306C=
NG_051954.1:g.92911G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1844C= MANE Select	ENSP00000302728.4:p.Pro615=
ENST00000304895.8:c.1844C=	ENSP00000302728.4:p.Pro615=
ENST00000421103.5:c.1406C=	ENSP00000391390.1:p.Pro469=
ENST00000430730.5:c.*1111C=	ENSP00000411859.1:n.*1111C=
ENST00000447929.5:c.*1224C=	ENSP00000411262.1:n.*1224C=
ENST00000466883.5:n.2234C=
NM_000181.3:c.1844C=	NP_000172.2:p.Pro615=
NM_001284290.1:c.1406C=	NP_001271219.1:p.Pro469=
NM_001293104.1:c.1274C=	NP_001280033.1:p.Pro425=
NM_001293105.1:c.1187C=	NP_001280034.1:p.Pro396=
NR_120531.1:n.1890C=
XM_005250297.3:c.1691C=	XP_005250354.1:p.Pro564=
XM_011516113.1:c.1343C=	XP_011514415.1:p.Pro448=
XM_011516114.1:c.1172C=	XP_011514416.1:p.Pro391=
XM_005250297.4:c.1691C=	XP_005250354.1:p.Pro564=
XM_011516114.2:c.1172C=	XP_011514416.1:p.Pro391=
XM_017012091.1:c.1190C=	XP_016867580.1:p.Pro397=
XM_017012092.1:c.1121C=	XP_016867581.1:p.Pro374=
XM_017012093.2:c.1019C=	XP_016867582.1:p.Pro340=
XR_001744658.2:n.1651C=
XR_001744659.2:n.1764C=
XR_001744660.2:n.1696C=
XR_001744661.2:n.1611C=
XR_927461.3:n.1849C=
NM_000181.4:c.1844C= MANE Select	NP_000172.2:p.Pro615=
NM_001284290.2:c.1406C=	NP_001271219.1:p.Pro469=
NM_001293104.2:c.1274C=	NP_001280033.1:p.Pro425=
NM_001293105.2:c.1187C=	NP_001280034.1:p.Pro396=
NR_120531.2:n.1789C=