Canonical Allele Identifier: CA367637300

Gene: GUSB

Linked Data

• dbSNP Id: rs1198693940
• gnomAD v2: 7-65425972-C-T
• gnomAD v4: 7-65960985-C-T
• MyVariant Identifiers: chr7:g.65425972C>T (hg19) ; chr7:g.65960985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960985C>T , CM000669.2:g.65960985C>T	GRCh38
NC_000007.13:g.65425972C>T , CM000669.1:g.65425972C>T	GRCh37
NC_000007.12:g.65063407C>T	NCBI36
NG_016197.1:g.26330G>A
NG_051954.1:g.92887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1868G>A MANE Select	ENSP00000302728.4:p.Arg623Gln
ENST00000304895.8:c.1868G>A	ENSP00000302728.4:p.Arg623Gln
ENST00000421103.5:c.1430G>A	ENSP00000391390.1:p.Arg477Gln
ENST00000430730.5:c.*1135G>A	ENSP00000411859.1:n.*1135G>A
ENST00000447929.5:c.*1248G>A	ENSP00000411262.1:n.*1248G>A
ENST00000466883.5:n.2258G>A
NM_000181.3:c.1868G>A	NP_000172.2:p.Arg623Gln
NM_001284290.1:c.1430G>A	NP_001271219.1:p.Arg477Gln
NM_001293104.1:c.1298G>A	NP_001280033.1:p.Arg433Gln
NM_001293105.1:c.1211G>A	NP_001280034.1:p.Arg404Gln
NR_120531.1:n.1914G>A
XM_005250297.3:c.1715G>A	XP_005250354.1:p.Arg572Gln
XM_011516113.1:c.1367G>A	XP_011514415.1:p.Arg456Gln
XM_011516114.1:c.1196G>A	XP_011514416.1:p.Arg399Gln
XM_005250297.4:c.1715G>A	XP_005250354.1:p.Arg572Gln
XM_011516114.2:c.1196G>A	XP_011514416.1:p.Arg399Gln
XM_017012091.1:c.1214G>A	XP_016867580.1:p.Arg405Gln
XM_017012092.1:c.1145G>A	XP_016867581.1:p.Arg382Gln
XM_017012093.2:c.1043G>A	XP_016867582.1:p.Arg348Gln
XR_001744658.2:n.1675G>A
XR_001744659.2:n.1788G>A
XR_001744660.2:n.1720G>A
XR_001744661.2:n.1635G>A
XR_927461.3:n.1873G>A
NM_000181.4:c.1868G>A MANE Select	NP_000172.2:p.Arg623Gln
NM_001284290.2:c.1430G>A	NP_001271219.1:p.Arg477Gln
NM_001293104.2:c.1298G>A	NP_001280033.1:p.Arg433Gln
NM_001293105.2:c.1211G>A	NP_001280034.1:p.Arg404Gln
NR_120531.2:n.1813G>A