Canonical Allele Identifier: CA339838
Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 893
ClinVar RCV Id: RCV000000941
dbSNP Id: rs121918172
gnomAD v2: 7-65425984-G-A
gnomAD v3: 7-65960997-G-A
gnomAD v4: 7-65960997-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960997G>A , CM000669.2:g.65960997G>A GRCh38
NC_000007.13:g.65425984G>A , CM000669.1:g.65425984G>A GRCh37
NC_000007.12:g.65063419G>A NCBI36
NG_016197.1:g.26318C>T
NG_051954.1:g.92899G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304895.9:c.1856C>T MANE Select ENSP00000302728.4:p.Ala619Val
ENST00000304895.8:c.1856C>T ENSP00000302728.4:p.Ala619Val
ENST00000421103.5:c.1418C>T ENSP00000391390.1:p.Ala473Val
ENST00000430730.5:c.*1123C>T ENSP00000411859.1:n.*1123C>T
ENST00000447929.5:c.*1236C>T ENSP00000411262.1:n.*1236C>T
ENST00000466883.5:n.2246C>T
NM_000181.3:c.1856C>T NP_000172.2:p.Ala619Val
NM_001284290.1:c.1418C>T NP_001271219.1:p.Ala473Val
NM_001293104.1:c.1286C>T NP_001280033.1:p.Ala429Val
NM_001293105.1:c.1199C>T NP_001280034.1:p.Ala400Val
NR_120531.1:n.1902C>T
XM_005250297.3:c.1703C>T XP_005250354.1:p.Ala568Val
XM_011516113.1:c.1355C>T XP_011514415.1:p.Ala452Val
XM_011516114.1:c.1184C>T XP_011514416.1:p.Ala395Val
XM_005250297.4:c.1703C>T XP_005250354.1:p.Ala568Val
XM_011516114.2:c.1184C>T XP_011514416.1:p.Ala395Val
XM_017012091.1:c.1202C>T XP_016867580.1:p.Ala401Val
XM_017012092.1:c.1133C>T XP_016867581.1:p.Ala378Val
XM_017012093.2:c.1031C>T XP_016867582.1:p.Ala344Val
XR_001744658.2:n.1663C>T
XR_001744659.2:n.1776C>T
XR_001744660.2:n.1708C>T
XR_001744661.2:n.1623C>T
XR_927461.3:n.1861C>T
NM_000181.4:c.1856C>T MANE Select NP_000172.2:p.Ala619Val
NM_001284290.2:c.1418C>T NP_001271219.1:p.Ala473Val
NM_001293104.2:c.1286C>T NP_001280033.1:p.Ala429Val
NM_001293105.2:c.1199C>T NP_001280034.1:p.Ala400Val
NR_120531.2:n.1801C>T