Canonical Allele Identifier: CA1102383840

Gene: GUSB

Linked Data

• dbSNP Id: rs1790434407
• gnomAD v3: 7-65960838-T-G
• gnomAD v4: 7-65960838-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960838T>G , CM000669.2:g.65960838T>G	GRCh38
NC_000007.13:g.65425825T>G , CM000669.1:g.65425825T>G	GRCh37
NC_000007.12:g.65063260T>G	NCBI36
NG_016197.1:g.26477A>C
NG_051954.1:g.92740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.*59A>C MANE Select	ENSP00000302728.4:n.*59A>C
ENST00000304895.8:c.*59A>C	ENSP00000302728.4:n.*59A>C
ENST00000421103.5:c.*59A>C	ENSP00000391390.1:n.*59A>C
ENST00000430730.5:c.*1282A>C	ENSP00000411859.1:n.*1282A>C
ENST00000447929.5:c.*1395A>C	ENSP00000411262.1:n.*1395A>C
ENST00000466883.5:n.2405A>C
NM_000181.3:c.*59A>C	NP_000172.2:n.*59A>C
NM_001284290.1:c.*59A>C	NP_001271219.1:n.*59A>C
NM_001293104.1:c.*59A>C	NP_001280033.1:n.*59A>C
NM_001293105.1:c.*59A>C	NP_001280034.1:n.*59A>C
NR_120531.1:n.2061A>C
XM_005250297.3:c.*59A>C	XP_005250354.1:n.*59A>C
XM_011516113.1:c.*59A>C	XP_011514415.1:n.*59A>C
XM_011516114.1:c.*59A>C	XP_011514416.1:n.*59A>C
XM_005250297.4:c.*59A>C	XP_005250354.1:n.*59A>C
XM_011516114.2:c.*59A>C	XP_011514416.1:n.*59A>C
XM_017012091.1:c.*59A>C	XP_016867580.1:n.*59A>C
XM_017012092.1:c.*59A>C	XP_016867581.1:n.*59A>C
XM_017012093.2:c.*59A>C	XP_016867582.1:n.*59A>C
XR_001744658.2:n.1822A>C
XR_001744659.2:n.1935A>C
XR_001744660.2:n.1867A>C
XR_001744661.2:n.1782A>C
XR_927461.3:n.2020A>C
NM_000181.4:c.*59A>C MANE Select	NP_000172.2:n.*59A>C
NM_001284290.2:c.*59A>C	NP_001271219.1:n.*59A>C
NM_001293104.2:c.*59A>C	NP_001280033.1:n.*59A>C
NM_001293105.2:c.*59A>C	NP_001280034.1:n.*59A>C
NR_120531.2:n.1960A>C