Canonical Allele Identifier: CA1713854819
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65961044C= , CM000669.2:g.65961044C= GRCh38
NC_000007.13:g.65426031C= , CM000669.1:g.65426031C= GRCh37
NC_000007.12:g.65063466C= NCBI36
NG_016197.1:g.26271G=
NG_051954.1:g.92946C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1809G= MANE Select ENSP00000302728.4:p.Gly603=
ENST00000304895.8:c.1809G= ENSP00000302728.4:p.Gly603=
ENST00000421103.5:c.1371G= ENSP00000391390.1:p.Gly457=
ENST00000430730.5:c.*1076G= ENSP00000411859.1:n.*1076G=
ENST00000447929.5:c.*1189G= ENSP00000411262.1:n.*1189G=
ENST00000466883.5:n.2199G=
NM_000181.3:c.1809G= NP_000172.2:p.Gly603=
NM_001284290.1:c.1371G= NP_001271219.1:p.Gly457=
NM_001293104.1:c.1239G= NP_001280033.1:p.Gly413=
NM_001293105.1:c.1152G= NP_001280034.1:p.Gly384=
NR_120531.1:n.1855G=
XM_005250297.3:c.1656G= XP_005250354.1:p.Gly552=
XM_011516113.1:c.1308G= XP_011514415.1:p.Gly436=
XM_011516114.1:c.1137G= XP_011514416.1:p.Gly379=
XM_005250297.4:c.1656G= XP_005250354.1:p.Gly552=
XM_011516114.2:c.1137G= XP_011514416.1:p.Gly379=
XM_017012091.1:c.1155G= XP_016867580.1:p.Gly385=
XM_017012092.1:c.1086G= XP_016867581.1:p.Gly362=
XM_017012093.2:c.984G= XP_016867582.1:p.Gly328=
XR_001744658.2:n.1616G=
XR_001744659.2:n.1729G=
XR_001744660.2:n.1661G=
XR_001744661.2:n.1576G=
XR_927461.3:n.1814G=
NM_000181.4:c.1809G= MANE Select NP_000172.2:p.Gly603=
NM_001284290.2:c.1371G= NP_001271219.1:p.Gly457=
NM_001293104.2:c.1239G= NP_001280033.1:p.Gly413=
NM_001293105.2:c.1152G= NP_001280034.1:p.Gly384=
NR_120531.2:n.1754G=