Canonical Allele Identifier: CA367637493

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426011G>T (hg19) ; chr7:g.65961024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961024G>T , CM000669.2:g.65961024G>T	GRCh38
NC_000007.13:g.65426011G>T , CM000669.1:g.65426011G>T	GRCh37
NC_000007.12:g.65063446G>T	NCBI36
NG_016197.1:g.26291C>A
NG_051954.1:g.92926G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1829C>A MANE Select	ENSP00000302728.4:p.Thr610Asn
ENST00000304895.8:c.1829C>A	ENSP00000302728.4:p.Thr610Asn
ENST00000421103.5:c.1391C>A	ENSP00000391390.1:p.Thr464Asn
ENST00000430730.5:c.*1096C>A	ENSP00000411859.1:n.*1096C>A
ENST00000447929.5:c.*1209C>A	ENSP00000411262.1:n.*1209C>A
ENST00000466883.5:n.2219C>A
NM_000181.3:c.1829C>A	NP_000172.2:p.Thr610Asn
NM_001284290.1:c.1391C>A	NP_001271219.1:p.Thr464Asn
NM_001293104.1:c.1259C>A	NP_001280033.1:p.Thr420Asn
NM_001293105.1:c.1172C>A	NP_001280034.1:p.Thr391Asn
NR_120531.1:n.1875C>A
XM_005250297.3:c.1676C>A	XP_005250354.1:p.Thr559Asn
XM_011516113.1:c.1328C>A	XP_011514415.1:p.Thr443Asn
XM_011516114.1:c.1157C>A	XP_011514416.1:p.Thr386Asn
XM_005250297.4:c.1676C>A	XP_005250354.1:p.Thr559Asn
XM_011516114.2:c.1157C>A	XP_011514416.1:p.Thr386Asn
XM_017012091.1:c.1175C>A	XP_016867580.1:p.Thr392Asn
XM_017012092.1:c.1106C>A	XP_016867581.1:p.Thr369Asn
XM_017012093.2:c.1004C>A	XP_016867582.1:p.Thr335Asn
XR_001744658.2:n.1636C>A
XR_001744659.2:n.1749C>A
XR_001744660.2:n.1681C>A
XR_001744661.2:n.1596C>A
XR_927461.3:n.1834C>A
NM_000181.4:c.1829C>A MANE Select	NP_000172.2:p.Thr610Asn
NM_001284290.2:c.1391C>A	NP_001271219.1:p.Thr464Asn
NM_001293104.2:c.1259C>A	NP_001280033.1:p.Thr420Asn
NM_001293105.2:c.1172C>A	NP_001280034.1:p.Thr391Asn
NR_120531.2:n.1774C>A