Canonical Allele Identifier: CA1713854110
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960786G= , CM000669.2:g.65960786G= GRCh38
NC_000007.13:g.65425773G= , CM000669.1:g.65425773G= GRCh37
NC_000007.12:g.65063208G= NCBI36
NG_016197.1:g.26529C=
NG_051954.1:g.92688G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.*111C= MANE Select ENSP00000302728.4:n.*111C=
ENST00000304895.8:c.*111C= ENSP00000302728.4:n.*111C=
ENST00000421103.5:c.*111C= ENSP00000391390.1:n.*111C=
ENST00000430730.5:c.*1334C= ENSP00000411859.1:n.*1334C=
ENST00000447929.5:c.*1447C= ENSP00000411262.1:n.*1447C=
ENST00000466883.5:n.2457C=
NM_000181.3:c.*111C= NP_000172.2:n.*111C=
NM_001284290.1:c.*111C= NP_001271219.1:n.*111C=
NM_001293104.1:c.*111C= NP_001280033.1:n.*111C=
NM_001293105.1:c.*111C= NP_001280034.1:n.*111C=
NR_120531.1:n.2113C=
XM_005250297.3:c.*111C= XP_005250354.1:n.*111C=
XM_011516113.1:c.*111C= XP_011514415.1:n.*111C=
XM_011516114.1:c.*111C= XP_011514416.1:n.*111C=
XM_005250297.4:c.*111C= XP_005250354.1:n.*111C=
XM_011516114.2:c.*111C= XP_011514416.1:n.*111C=
XM_017012091.1:c.*111C= XP_016867580.1:n.*111C=
XM_017012092.1:c.*111C= XP_016867581.1:n.*111C=
XM_017012093.2:c.*111C= XP_016867582.1:n.*111C=
XR_001744658.2:n.1874C=
XR_001744659.2:n.1987C=
XR_001744660.2:n.1919C=
XR_001744661.2:n.1834C=
XR_927461.3:n.2072C=
NM_000181.4:c.*111C= MANE Select NP_000172.2:n.*111C=
NM_001284290.2:c.*111C= NP_001271219.1:n.*111C=
NM_001293104.2:c.*111C= NP_001280033.1:n.*111C=
NM_001293105.2:c.*111C= NP_001280034.1:n.*111C=
NR_120531.2:n.2012C=