Canonical Allele Identifier: CA4276133

Gene: GUSB

Linked Data

• dbSNP Id: rs771138602
• ExAC: 7:65425886 A / C
• gnomAD v2: 7-65425886-A-C
• gnomAD v4: 7-65960899-A-C
• MyVariant Identifiers: chr7:g.65425886A>C (hg19) ; chr7:g.65960899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960899A>C , CM000669.2:g.65960899A>C	GRCh38
NC_000007.13:g.65425886A>C , CM000669.1:g.65425886A>C	GRCh37
NC_000007.12:g.65063321A>C	NCBI36
NG_016197.1:g.26416T>G
NG_051954.1:g.92801A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1954T>G MANE Select	ENSP00000302728.4:p.Ter652Gly
ENST00000304895.8:c.1954T>G	ENSP00000302728.4:p.Ter652Gly
ENST00000421103.5:c.1516T>G	ENSP00000391390.1:p.Ter506Gly
ENST00000430730.5:c.*1221T>G	ENSP00000411859.1:n.*1221T>G
ENST00000447929.5:c.*1334T>G	ENSP00000411262.1:n.*1334T>G
ENST00000466883.5:n.2344T>G
NM_000181.3:c.1954T>G	NP_000172.2:p.Ter652Gly
NM_001284290.1:c.1516T>G	NP_001271219.1:p.Ter506Gly
NM_001293104.1:c.1384T>G	NP_001280033.1:p.Ter462Gly
NM_001293105.1:c.1297T>G	NP_001280034.1:p.Ter433Gly
NR_120531.1:n.2000T>G
XM_005250297.3:c.1801T>G	XP_005250354.1:p.Ter601Gly
XM_011516113.1:c.1453T>G	XP_011514415.1:p.Ter485Gly
XM_011516114.1:c.1282T>G	XP_011514416.1:p.Ter428Gly
XM_005250297.4:c.1801T>G	XP_005250354.1:p.Ter601Gly
XM_011516114.2:c.1282T>G	XP_011514416.1:p.Ter428Gly
XM_017012091.1:c.1300T>G	XP_016867580.1:p.Ter434Gly
XM_017012092.1:c.1231T>G	XP_016867581.1:p.Ter411Gly
XM_017012093.2:c.1129T>G	XP_016867582.1:p.Ter377Gly
XR_001744658.2:n.1761T>G
XR_001744659.2:n.1874T>G
XR_001744660.2:n.1806T>G
XR_001744661.2:n.1721T>G
XR_927461.3:n.1959T>G
NM_000181.4:c.1954T>G MANE Select	NP_000172.2:p.Ter652Gly
NM_001284290.2:c.1516T>G	NP_001271219.1:p.Ter506Gly
NM_001293104.2:c.1384T>G	NP_001280033.1:p.Ter462Gly
NM_001293105.2:c.1297T>G	NP_001280034.1:p.Ter433Gly
NR_120531.2:n.1899T>G