Canonical Allele Identifier: CA367637695

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961055-T-C
• MyVariant Identifiers: chr7:g.65426042T>C (hg19) ; chr7:g.65961055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961055T>C , CM000669.2:g.65961055T>C	GRCh38
NC_000007.13:g.65426042T>C , CM000669.1:g.65426042T>C	GRCh37
NC_000007.12:g.65063477T>C	NCBI36
NG_016197.1:g.26260A>G
NG_051954.1:g.92957T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1798A>G MANE Select	ENSP00000302728.4:p.Arg600Gly
ENST00000304895.8:c.1798A>G	ENSP00000302728.4:p.Arg600Gly
ENST00000421103.5:c.1360A>G	ENSP00000391390.1:p.Arg454Gly
ENST00000430730.5:c.*1065A>G	ENSP00000411859.1:n.*1065A>G
ENST00000447929.5:c.*1178A>G	ENSP00000411262.1:n.*1178A>G
ENST00000466883.5:n.2188A>G
NM_000181.3:c.1798A>G	NP_000172.2:p.Arg600Gly
NM_001284290.1:c.1360A>G	NP_001271219.1:p.Arg454Gly
NM_001293104.1:c.1228A>G	NP_001280033.1:p.Arg410Gly
NM_001293105.1:c.1141A>G	NP_001280034.1:p.Arg381Gly
NR_120531.1:n.1844A>G
XM_005250297.3:c.1645A>G	XP_005250354.1:p.Arg549Gly
XM_011516113.1:c.1297A>G	XP_011514415.1:p.Arg433Gly
XM_011516114.1:c.1126A>G	XP_011514416.1:p.Arg376Gly
XM_005250297.4:c.1645A>G	XP_005250354.1:p.Arg549Gly
XM_011516114.2:c.1126A>G	XP_011514416.1:p.Arg376Gly
XM_017012091.1:c.1144A>G	XP_016867580.1:p.Arg382Gly
XM_017012092.1:c.1075A>G	XP_016867581.1:p.Arg359Gly
XM_017012093.2:c.973A>G	XP_016867582.1:p.Arg325Gly
XR_001744658.2:n.1605A>G
XR_001744659.2:n.1718A>G
XR_001744660.2:n.1650A>G
XR_001744661.2:n.1565A>G
XR_927461.3:n.1803A>G
NM_000181.4:c.1798A>G MANE Select	NP_000172.2:p.Arg600Gly
NM_001284290.2:c.1360A>G	NP_001271219.1:p.Arg454Gly
NM_001293104.2:c.1228A>G	NP_001280033.1:p.Arg410Gly
NM_001293105.2:c.1141A>G	NP_001280034.1:p.Arg381Gly
NR_120531.2:n.1743A>G