Canonical Allele Identifier: CA10624158
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 360547
ClinVar RCV Id: RCV000315120
dbSNP Id: rs190201470
gnomAD v3: 7-65960689-A-G
gnomAD v4: 7-65960689-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960689A>G , CM000669.2:g.65960689A>G GRCh38
NC_000007.13:g.65425676A>G , CM000669.1:g.65425676A>G GRCh37
NC_000007.12:g.65063111A>G NCBI36
NG_016197.1:g.26626T>C
NG_051954.1:g.92591A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.*208T>C MANE Select ENSP00000302728.4:n.*208T>C
ENST00000304895.8:c.*208T>C ENSP00000302728.4:n.*208T>C
ENST00000466883.5:n.2554T>C
NM_000181.3:c.*208T>C NP_000172.2:n.*208T>C
NM_001284290.1:c.*208T>C NP_001271219.1:n.*208T>C
NM_001293104.1:c.*208T>C NP_001280033.1:n.*208T>C
NM_001293105.1:c.*208T>C NP_001280034.1:n.*208T>C
NR_120531.1:n.2210T>C
XM_005250297.3:c.*208T>C XP_005250354.1:n.*208T>C
XM_011516113.1:c.*208T>C XP_011514415.1:n.*208T>C
XM_011516114.1:c.*208T>C XP_011514416.1:n.*208T>C
XM_005250297.4:c.*208T>C XP_005250354.1:n.*208T>C
XM_011516114.2:c.*208T>C XP_011514416.1:n.*208T>C
XM_017012091.1:c.*208T>C XP_016867580.1:n.*208T>C
XM_017012092.1:c.*208T>C XP_016867581.1:n.*208T>C
XM_017012093.2:c.*208T>C XP_016867582.1:n.*208T>C
XR_001744658.2:n.1971T>C
XR_001744659.2:n.2084T>C
NM_000181.4:c.*208T>C MANE Select NP_000172.2:n.*208T>C
NM_001284290.2:c.*208T>C NP_001271219.1:n.*208T>C
NM_001293104.2:c.*208T>C NP_001280033.1:n.*208T>C
NM_001293105.2:c.*208T>C NP_001280034.1:n.*208T>C
NR_120531.2:n.2109T>C