Canonical Allele Identifier: CA367636984

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425901T>A (hg19) ; chr7:g.65960914T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960914T>A , CM000669.2:g.65960914T>A	GRCh38
NC_000007.13:g.65425901T>A , CM000669.1:g.65425901T>A	GRCh37
NC_000007.12:g.65063336T>A	NCBI36
NG_016197.1:g.26401A>T
NG_051954.1:g.92816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1939A>T MANE Select	ENSP00000302728.4:p.Asn647Tyr
ENST00000304895.8:c.1939A>T	ENSP00000302728.4:p.Asn647Tyr
ENST00000421103.5:c.1501A>T	ENSP00000391390.1:p.Asn501Tyr
ENST00000430730.5:c.*1206A>T	ENSP00000411859.1:n.*1206A>T
ENST00000447929.5:c.*1319A>T	ENSP00000411262.1:n.*1319A>T
ENST00000466883.5:n.2329A>T
NM_000181.3:c.1939A>T	NP_000172.2:p.Asn647Tyr
NM_001284290.1:c.1501A>T	NP_001271219.1:p.Asn501Tyr
NM_001293104.1:c.1369A>T	NP_001280033.1:p.Asn457Tyr
NM_001293105.1:c.1282A>T	NP_001280034.1:p.Asn428Tyr
NR_120531.1:n.1985A>T
XM_005250297.3:c.1786A>T	XP_005250354.1:p.Asn596Tyr
XM_011516113.1:c.1438A>T	XP_011514415.1:p.Asn480Tyr
XM_011516114.1:c.1267A>T	XP_011514416.1:p.Asn423Tyr
XM_005250297.4:c.1786A>T	XP_005250354.1:p.Asn596Tyr
XM_011516114.2:c.1267A>T	XP_011514416.1:p.Asn423Tyr
XM_017012091.1:c.1285A>T	XP_016867580.1:p.Asn429Tyr
XM_017012092.1:c.1216A>T	XP_016867581.1:p.Asn406Tyr
XM_017012093.2:c.1114A>T	XP_016867582.1:p.Asn372Tyr
XR_001744658.2:n.1746A>T
XR_001744659.2:n.1859A>T
XR_001744660.2:n.1791A>T
XR_001744661.2:n.1706A>T
XR_927461.3:n.1944A>T
NM_000181.4:c.1939A>T MANE Select	NP_000172.2:p.Asn647Tyr
NM_001284290.2:c.1501A>T	NP_001271219.1:p.Asn501Tyr
NM_001293104.2:c.1369A>T	NP_001280033.1:p.Asn457Tyr
NM_001293105.2:c.1282A>T	NP_001280034.1:p.Asn428Tyr
NR_120531.2:n.1884A>T