Canonical Allele Identifier: CA367637490

Gene: GUSB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1829C>G MANE Select	ENSP00000302728.4:p.Thr610Ser
ENST00000304895.8:c.1829C>G	ENSP00000302728.4:p.Thr610Ser
ENST00000421103.5:c.1391C>G	ENSP00000391390.1:p.Thr464Ser
ENST00000430730.5:c.*1096C>G	ENSP00000411859.1:n.*1096C>G
ENST00000447929.5:c.*1209C>G	ENSP00000411262.1:n.*1209C>G
ENST00000466883.5:n.2219C>G
NM_000181.3:c.1829C>G	NP_000172.2:p.Thr610Ser
NM_001284290.1:c.1391C>G	NP_001271219.1:p.Thr464Ser
NM_001293104.1:c.1259C>G	NP_001280033.1:p.Thr420Ser
NM_001293105.1:c.1172C>G	NP_001280034.1:p.Thr391Ser
NR_120531.1:n.1875C>G
XM_005250297.3:c.1676C>G	XP_005250354.1:p.Thr559Ser
XM_011516113.1:c.1328C>G	XP_011514415.1:p.Thr443Ser
XM_011516114.1:c.1157C>G	XP_011514416.1:p.Thr386Ser
XM_005250297.4:c.1676C>G	XP_005250354.1:p.Thr559Ser
XM_011516114.2:c.1157C>G	XP_011514416.1:p.Thr386Ser
XM_017012091.1:c.1175C>G	XP_016867580.1:p.Thr392Ser
XM_017012092.1:c.1106C>G	XP_016867581.1:p.Thr369Ser
XM_017012093.2:c.1004C>G	XP_016867582.1:p.Thr335Ser
XR_001744658.2:n.1636C>G
XR_001744659.2:n.1749C>G
XR_001744660.2:n.1681C>G
XR_001744661.2:n.1596C>G
XR_927461.3:n.1834C>G
NM_000181.4:c.1829C>G MANE Select	NP_000172.2:p.Thr610Ser
NM_001284290.2:c.1391C>G	NP_001271219.1:p.Thr464Ser
NM_001293104.2:c.1259C>G	NP_001280033.1:p.Thr420Ser
NM_001293105.2:c.1172C>G	NP_001280034.1:p.Thr391Ser
NR_120531.2:n.1774C>G