Canonical Allele Identifier: CA1713854195

Gene: GUSB

Linked Data

• dbSNP Id: rs1790433390
• gnomAD v4: 7-65960827-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960827A>G , CM000669.2:g.65960827A>G	GRCh38
NC_000007.13:g.65425814A>G , CM000669.1:g.65425814A>G	GRCh37
NC_000007.12:g.65063249A>G	NCBI36
NG_016197.1:g.26488T>C
NG_051954.1:g.92729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*70T>C MANE Select	ENSP00000302728.4:n.*70T>C
ENST00000304895.8:c.*70T>C	ENSP00000302728.4:n.*70T>C
ENST00000421103.5:c.*70T>C	ENSP00000391390.1:n.*70T>C
ENST00000430730.5:c.*1293T>C	ENSP00000411859.1:n.*1293T>C
ENST00000447929.5:c.*1406T>C	ENSP00000411262.1:n.*1406T>C
ENST00000466883.5:n.2416T>C
NM_000181.3:c.*70T>C	NP_000172.2:n.*70T>C
NM_001284290.1:c.*70T>C	NP_001271219.1:n.*70T>C
NM_001293104.1:c.*70T>C	NP_001280033.1:n.*70T>C
NM_001293105.1:c.*70T>C	NP_001280034.1:n.*70T>C
NR_120531.1:n.2072T>C
XM_005250297.3:c.*70T>C	XP_005250354.1:n.*70T>C
XM_011516113.1:c.*70T>C	XP_011514415.1:n.*70T>C
XM_011516114.1:c.*70T>C	XP_011514416.1:n.*70T>C
XM_005250297.4:c.*70T>C	XP_005250354.1:n.*70T>C
XM_011516114.2:c.*70T>C	XP_011514416.1:n.*70T>C
XM_017012091.1:c.*70T>C	XP_016867580.1:n.*70T>C
XM_017012092.1:c.*70T>C	XP_016867581.1:n.*70T>C
XM_017012093.2:c.*70T>C	XP_016867582.1:n.*70T>C
XR_001744658.2:n.1833T>C
XR_001744659.2:n.1946T>C
XR_001744660.2:n.1878T>C
XR_001744661.2:n.1793T>C
XR_927461.3:n.2031T>C
NM_000181.4:c.*70T>C MANE Select	NP_000172.2:n.*70T>C
NM_001284290.2:c.*70T>C	NP_001271219.1:n.*70T>C
NM_001293104.2:c.*70T>C	NP_001280033.1:n.*70T>C
NM_001293105.2:c.*70T>C	NP_001280034.1:n.*70T>C
NR_120531.2:n.1971T>C