Canonical Allele Identifier: CA367637367

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961001-C-T
• MyVariant Identifiers: chr7:g.65425988C>T (hg19) ; chr7:g.65961001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961001C>T , CM000669.2:g.65961001C>T	GRCh38
NC_000007.13:g.65425988C>T , CM000669.1:g.65425988C>T	GRCh37
NC_000007.12:g.65063423C>T	NCBI36
NG_016197.1:g.26314G>A
NG_051954.1:g.92903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1852G>A MANE Select	ENSP00000302728.4:p.Ala618Thr
ENST00000304895.8:c.1852G>A	ENSP00000302728.4:p.Ala618Thr
ENST00000421103.5:c.1414G>A	ENSP00000391390.1:p.Ala472Thr
ENST00000430730.5:c.*1119G>A	ENSP00000411859.1:n.*1119G>A
ENST00000447929.5:c.*1232G>A	ENSP00000411262.1:n.*1232G>A
ENST00000466883.5:n.2242G>A
NM_000181.3:c.1852G>A	NP_000172.2:p.Ala618Thr
NM_001284290.1:c.1414G>A	NP_001271219.1:p.Ala472Thr
NM_001293104.1:c.1282G>A	NP_001280033.1:p.Ala428Thr
NM_001293105.1:c.1195G>A	NP_001280034.1:p.Ala399Thr
NR_120531.1:n.1898G>A
XM_005250297.3:c.1699G>A	XP_005250354.1:p.Ala567Thr
XM_011516113.1:c.1351G>A	XP_011514415.1:p.Ala451Thr
XM_011516114.1:c.1180G>A	XP_011514416.1:p.Ala394Thr
XM_005250297.4:c.1699G>A	XP_005250354.1:p.Ala567Thr
XM_011516114.2:c.1180G>A	XP_011514416.1:p.Ala394Thr
XM_017012091.1:c.1198G>A	XP_016867580.1:p.Ala400Thr
XM_017012092.1:c.1129G>A	XP_016867581.1:p.Ala377Thr
XM_017012093.2:c.1027G>A	XP_016867582.1:p.Ala343Thr
XR_001744658.2:n.1659G>A
XR_001744659.2:n.1772G>A
XR_001744660.2:n.1704G>A
XR_001744661.2:n.1619G>A
XR_927461.3:n.1857G>A
NM_000181.4:c.1852G>A MANE Select	NP_000172.2:p.Ala618Thr
NM_001284290.2:c.1414G>A	NP_001271219.1:p.Ala472Thr
NM_001293104.2:c.1282G>A	NP_001280033.1:p.Ala428Thr
NM_001293105.2:c.1195G>A	NP_001280034.1:p.Ala399Thr
NR_120531.2:n.1797G>A