Canonical Allele Identifier: CA4276739
Gene: GUSB HGNC NCBI

Linked Data

dbSNP Id: rs557347158
gnomAD v2: 7-65447010-T-C
gnomAD v3: 7-65982023-T-C
gnomAD v4: 7-65982023-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982023T>C , CM000669.2:g.65982023T>C GRCh38
NC_000007.13:g.65447010T>C , CM000669.1:g.65447010T>C GRCh37
NC_000007.12:g.65084445T>C NCBI36
NG_016197.1:g.5292A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.161A>G MANE Select ENSP00000302728.4:p.Asn54Ser
ENST00000304895.8:c.161A>G ENSP00000302728.4:p.Asn54Ser
ENST00000421103.5:c.161A>G ENSP00000391390.1:p.Asn54Ser
ENST00000430730.5:c.161A>G ENSP00000411859.1:p.Asn54Ser
ENST00000446111.1:c.161A>G ENSP00000416793.1:p.Asn54Ser
ENST00000447929.5:c.161A>G ENSP00000411262.1:p.Asn54Ser
ENST00000475316.5:n.66A>G
NM_000181.3:c.161A>G NP_000172.2:p.Asn54Ser
NM_001284290.1:c.161A>G NP_001271219.1:p.Asn54Ser
NM_001293104.1:c.-225A>G NP_001280033.1:n.-225A>G
NM_001293105.1:c.-169A>G NP_001280034.1:n.-169A>G
NR_120531.1:n.292A>G
XM_005250297.3:c.161A>G XP_005250354.1:p.Asn54Ser
XM_011516113.1:c.-169A>G XP_011514415.1:n.-169A>G
XR_927461.1:n.287A>G
XM_005250297.4:c.161A>G XP_005250354.1:p.Asn54Ser
XM_011516114.2:c.-525A>G XP_011514416.1:n.-525A>G
XM_017012091.1:c.-169A>G XP_016867580.1:n.-169A>G
XM_017012092.1:c.-225A>G XP_016867581.1:n.-225A>G
XM_017012093.2:c.-525A>G XP_016867582.1:n.-525A>G
XR_001744658.2:n.206A>G
XR_001744659.2:n.206A>G
XR_001744660.2:n.206A>G
XR_001744661.2:n.206A>G
XR_927461.3:n.206A>G
NM_000181.4:c.161A>G MANE Select NP_000172.2:p.Asn54Ser
NM_001284290.2:c.161A>G NP_001271219.1:p.Asn54Ser
NM_001293104.2:c.-225A>G NP_001280033.1:n.-225A>G
NM_001293105.2:c.-169A>G NP_001280034.1:n.-169A>G
NR_120531.2:n.191A>G