Canonical Allele Identifier: CA2776236106
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960822G>C , CM000669.2:g.65960822G>C GRCh38
NC_000007.13:g.65425809G>C , CM000669.1:g.65425809G>C GRCh37
NC_000007.12:g.65063244G>C NCBI36
NG_016197.1:g.26493C>G
NG_051954.1:g.92724G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.*75C>G MANE Select ENSP00000302728.4:n.*75C>G
ENST00000304895.8:c.*75C>G ENSP00000302728.4:n.*75C>G
ENST00000421103.5:c.*75C>G ENSP00000391390.1:n.*75C>G
ENST00000430730.5:c.*1298C>G ENSP00000411859.1:n.*1298C>G
ENST00000447929.5:c.*1411C>G ENSP00000411262.1:n.*1411C>G
ENST00000466883.5:n.2421C>G
NM_000181.3:c.*75C>G NP_000172.2:n.*75C>G
NM_001284290.1:c.*75C>G NP_001271219.1:n.*75C>G
NM_001293104.1:c.*75C>G NP_001280033.1:n.*75C>G
NM_001293105.1:c.*75C>G NP_001280034.1:n.*75C>G
NR_120531.1:n.2077C>G
XM_005250297.3:c.*75C>G XP_005250354.1:n.*75C>G
XM_011516113.1:c.*75C>G XP_011514415.1:n.*75C>G
XM_011516114.1:c.*75C>G XP_011514416.1:n.*75C>G
XM_005250297.4:c.*75C>G XP_005250354.1:n.*75C>G
XM_011516114.2:c.*75C>G XP_011514416.1:n.*75C>G
XM_017012091.1:c.*75C>G XP_016867580.1:n.*75C>G
XM_017012092.1:c.*75C>G XP_016867581.1:n.*75C>G
XM_017012093.2:c.*75C>G XP_016867582.1:n.*75C>G
XR_001744658.2:n.1838C>G
XR_001744659.2:n.1951C>G
XR_001744660.2:n.1883C>G
XR_001744661.2:n.1798C>G
XR_927461.3:n.2036C>G
NM_000181.4:c.*75C>G MANE Select NP_000172.2:n.*75C>G
NM_001284290.2:c.*75C>G NP_001271219.1:n.*75C>G
NM_001293104.2:c.*75C>G NP_001280033.1:n.*75C>G
NM_001293105.2:c.*75C>G NP_001280034.1:n.*75C>G
NR_120531.2:n.1976C>G